Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.8209271G>A , CM000680.2:g.8209271G>A	GRCh38
NC_000018.9:g.8209269G>A , CM000680.1:g.8209269G>A	GRCh37
NC_000018.8:g.8199269G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000580170.6:c.2301-34787G>A MANE Select	ENSP00000463325.1:n.2301-34787G>A
ENST00000332175.12:c.2301-34787G>A	ENSP00000331418.8:n.2301-34787G>A
ENST00000400053.8:c.2115-34787G>A	ENSP00000382927.4:n.2115-34787G>A
ENST00000400060.8:c.-1258-34787G>A	ENSP00000382933.5:n.-1258-34787G>A
ENST00000577468.2:c.360-34787G>A	ENSP00000464128.1:n.360-34787G>A
ENST00000577827.5:n.599-34787G>A
ENST00000580170.5:c.2301-34787G>A	ENSP00000463325.1:n.2301-34787G>A
NM_001105244.1:c.2301-34787G>A	NP_001098714.1:n.2301-34787G>A
NM_002845.3:c.2301-34787G>A	NP_002836.3:n.2301-34787G>A
XM_006722335.2:c.2376-34787G>A	XP_006722398.1:n.2376-34787G>A
XM_006722337.2:c.2301-34787G>A	XP_006722400.1:n.2301-34787G>A
XM_011525708.1:c.2376-34787G>A	XP_011524010.1:n.2376-34787G>A
XM_011525709.1:c.2376-34787G>A	XP_011524011.1:n.2376-34787G>A
XM_011525710.1:c.2376-34787G>A	XP_011524012.1:n.2376-34787G>A
XM_011525711.1:c.2376-34787G>A	XP_011524013.1:n.2376-34787G>A
XM_011525712.1:c.2301-34787G>A	XP_011524014.1:n.2301-34787G>A
XM_011525713.1:c.2190-34787G>A	XP_011524015.1:n.2190-34787G>A
XM_011525714.1:c.2172-34787G>A	XP_011524016.1:n.2172-34787G>A
XM_011525715.1:c.1737-34787G>A	XP_011524017.1:n.1737-34787G>A
XM_011525716.1:c.1662-34787G>A	XP_011524018.1:n.1662-34787G>A
XM_011525717.1:c.1239-34787G>A	XP_011524019.1:n.1239-34787G>A
XM_011525718.1:c.2376-34787G>A	XP_011524020.1:n.2376-34787G>A
XM_011525719.1:c.2376-34787G>A	XP_011524021.1:n.2376-34787G>A
XM_011525721.1:c.2376-3640G>A	XP_011524023.1:n.2376-3640G>A
XM_011525722.1:c.1662-34787G>A	XP_011524024.1:n.1662-34787G>A
XR_430046.2:n.2874-34787G>A
XM_011525708.2:c.2376-34787G>A	XP_011524010.1:n.2376-34787G>A
XM_011525710.2:c.2376-34787G>A	XP_011524012.1:n.2376-34787G>A
XM_011525712.2:c.2301-34787G>A	XP_011524014.1:n.2301-34787G>A
XM_011525713.2:c.2190-34787G>A	XP_011524015.1:n.2190-34787G>A
XM_011525715.2:c.1737-34787G>A	XP_011524017.1:n.1737-34787G>A
XM_011525716.2:c.1662-34787G>A	XP_011524018.1:n.1662-34787G>A
XM_011525717.2:c.1239-34787G>A	XP_011524019.1:n.1239-34787G>A
XM_011525722.3:c.1662-34787G>A	XP_011524024.1:n.1662-34787G>A
XM_017025894.1:c.2361-34787G>A	XP_016881383.1:n.2361-34787G>A
XM_017025895.1:c.2361-34787G>A	XP_016881384.1:n.2361-34787G>A
XM_017025896.1:c.2361-34787G>A	XP_016881385.1:n.2361-34787G>A
XM_017025897.1:c.2361-34787G>A	XP_016881386.1:n.2361-34787G>A
XM_017025898.1:c.2361-34787G>A	XP_016881387.1:n.2361-34787G>A
XM_017025899.1:c.2286-34787G>A	XP_016881388.1:n.2286-34787G>A
XM_017025900.1:c.2361-34787G>A	XP_016881389.1:n.2361-34787G>A
XM_017025901.1:c.2286-34787G>A	XP_016881390.1:n.2286-34787G>A
XM_017025902.1:c.2286-34787G>A	XP_016881391.1:n.2286-34787G>A
XM_017025903.1:c.2286-34787G>A	XP_016881392.1:n.2286-34787G>A
XM_017025904.1:c.2286-34787G>A	XP_016881393.1:n.2286-34787G>A
XM_017025905.1:c.2190-34787G>A	XP_016881394.1:n.2190-34787G>A
XM_017025906.1:c.1737-34787G>A	XP_016881395.1:n.1737-34787G>A
XM_017025907.1:c.1662-34787G>A	XP_016881396.1:n.1662-34787G>A
XM_017025908.1:c.1737-34787G>A	XP_016881397.1:n.1737-34787G>A
XM_017025909.1:c.1662-34787G>A	XP_016881398.1:n.1662-34787G>A
XM_017025912.1:c.2361-3640G>A	XP_016881401.1:n.2361-3640G>A
XR_001753258.1:n.2418-34787G>A
NM_001105244.2:c.2301-34787G>A MANE Select	NP_001098714.1:n.2301-34787G>A
NM_001378142.1:c.1662-34787G>A	NP_001365071.1:n.1662-34787G>A
NM_001378143.1:c.1662-34787G>A	NP_001365072.1:n.1662-34787G>A
NM_001378144.1:c.1737-34787G>A	NP_001365073.1:n.1737-34787G>A
NM_001378145.1:c.1737-34787G>A	NP_001365074.1:n.1737-34787G>A
NM_001378146.1:c.1662-34787G>A	NP_001365075.1:n.1662-34787G>A
NM_001378147.1:c.1737-34787G>A	NP_001365076.1:n.1737-34787G>A
NM_002845.4:c.2301-34787G>A	NP_002836.3:n.2301-34787G>A

Linked Data

Genomic Alleles

Transcript Alleles