Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113131323T>A , CM000664.2:g.113131323T>A	GRCh38
NC_000002.11:g.113888900T>A , CM000664.1:g.113888900T>A	GRCh37
NC_000002.10:g.113605371T>A	NCBI36
NG_021240.1:g.18431T>A , LRG_188:g.18431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409052.6:c.216+166T>A	ENSP00000387210.1:n.216+166T>A
ENST00000696879.1:c.216+166T>A	ENSP00000512947.1:n.216+166T>A
ENST00000696880.1:c.216+166T>A	ENSP00000512948.1:n.216+166T>A
ENST00000696881.1:c.216+166T>A	ENSP00000512949.1:n.216+166T>A
ENST00000696882.1:c.*88+166T>A	ENSP00000512950.1:n.*88+166T>A
ENST00000696883.1:n.263+166T>A
ENST00000409930.4:c.318+166T>A MANE Select	ENSP00000387173.3:n.318+166T>A
ENST00000259206.9:c.327+166T>A	ENSP00000259206.5:n.327+166T>A
ENST00000354115.6:c.264+166T>A	ENSP00000329072.3:n.264+166T>A
ENST00000361779.7:c.216+166T>A	ENSP00000354816.3:n.216+166T>A
ENST00000409052.5:c.216+166T>A	ENSP00000387210.1:n.216+166T>A
ENST00000409930.3:c.318+166T>A	ENSP00000387173.3:n.318+166T>A
NM_000577.4:c.264+166T>A	NP_000568.1:n.264+166T>A
NM_173841.2:c.327+166T>A , LRG_188t1:c.327+166T>A	NP_776213.1:n.327+166T>A
NM_173842.2:c.318+166T>A	NP_776214.1:n.318+166T>A
NM_173843.2:c.216+166T>A	NP_776215.1:n.216+166T>A
XM_005263661.3:c.216+166T>A	XP_005263718.1:n.216+166T>A
XM_006712497.2:c.216+166T>A	XP_006712560.1:n.216+166T>A
XM_011511121.1:c.216+166T>A	XP_011509423.1:n.216+166T>A
NM_001318914.1:c.216+166T>A	NP_001305843.1:n.216+166T>A
XM_005263661.4:c.216+166T>A	XP_005263718.1:n.216+166T>A
NM_000577.5:c.264+166T>A	NP_000568.1:n.264+166T>A
NM_001318914.2:c.216+166T>A	NP_001305843.1:n.216+166T>A
NM_173842.3:c.318+166T>A MANE Select	NP_776214.1:n.318+166T>A
NM_173843.3:c.216+166T>A	NP_776215.1:n.216+166T>A
NM_001379360.1:c.216+166T>A	NP_001366289.1:n.216+166T>A
NM_173841.3:c.327+166T>A	NP_776213.1:n.327+166T>A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

Transcript Alleles