Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168577G>A , CM000679.2:g.50168577G>A	GRCh38
NC_000017.10:g.48245938G>A , CM000679.1:g.48245938G>A	GRCh37
NC_000017.9:g.45600937G>A	NCBI36
NG_008889.1:g.7573G>A , LRG_203:g.7573G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.584+5G>A MANE Select	NP_000014.1:n.584+5G>A
ENST00000262018.8:c.584+5G>A MANE Select	ENSP00000262018.3:n.584+5G>A
NM_000023.2:c.584+5G>A , LRG_203t1:c.584+5G>A	NP_000014.1:n.584+5G>A
NM_000023.3:c.584+5G>A	NP_000014.1:n.584+5G>A
NM_001135697.1:c.584+5G>A	NP_001129169.1:n.584+5G>A
NM_001135697.2:c.584+5G>A	NP_001129169.1:n.584+5G>A
NM_001135697.3:c.584+5G>A	NP_001129169.1:n.584+5G>A
NR_135553.1:n.640+5G>A
NR_135553.2:n.620+5G>A
ENST00000262018.7:c.584+5G>A	ENSP00000262018.3:n.584+5G>A
ENST00000344627.10:c.584+5G>A	ENSP00000345522.6:n.584+5G>A
ENST00000502555.5:c.*243+5G>A	ENSP00000422817.1:n.*243+5G>A
ENST00000504073.1:c.51+5G>A
ENST00000504073.2:c.584+5G>A	ENSP00000422030.2:n.584+5G>A
ENST00000511303.5:c.305+5G>A	ENSP00000426104.1:n.305+5G>A
ENST00000511303.6:n.309+5G>A
ENST00000512526.1:c.419+5G>A
ENST00000512526.2:c.575+5G>A	ENSP00000426606.2:n.575+5G>A
ENST00000513821.5:c.584+5G>A	ENSP00000426571.1:n.584+5G>A
ENST00000513942.5:n.375+5G>A
ENST00000682109.1:c.464+5G>A	ENSP00000508041.1:n.464+5G>A
ENST00000683226.1:n.294+5G>A
ENST00000683294.1:c.584+5G>A	ENSP00000508134.1:n.584+5G>A
XM_011525120.1:c.584+5G>A	XP_011523422.1:n.584+5G>A
XM_011525120.2:c.746+5G>A	XP_011523422.2:n.746+5G>A
XM_011525121.1:c.584+5G>A	XP_011523423.1:n.584+5G>A
XM_011525121.2:c.746+5G>A	XP_011523423.2:n.746+5G>A
XM_011525122.1:c.584+5G>A	XP_011523424.1:n.584+5G>A
XM_011525122.2:c.746+5G>A	XP_011523424.2:n.746+5G>A
XM_011525123.1:c.584+5G>A	XP_011523425.1:n.584+5G>A
XM_011525123.2:c.746+5G>A	XP_011523425.2:n.746+5G>A
XM_011525124.1:c.278+5G>A	XP_011523426.1:n.278+5G>A
XM_011525124.2:c.278+5G>A	XP_011523426.1:n.278+5G>A
XM_024450873.1:c.278+5G>A	XP_024306641.1:n.278+5G>A
XR_002958056.1:n.1102+5G>A
XR_934517.1:n.650+5G>A