Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93797256G>A , CM000672.2:g.93797256G>A	GRCh38
NC_000010.10:g.95557013G>A , CM000672.1:g.95557013G>A	GRCh37
NC_000010.9:g.95547003G>A	NCBI36
NG_011832.1:g.44448G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371418.9:c.1127G>A MANE Select	ENSP00000360472.4:p.Trp376Ter
ENST00000485458.3:n.5103G>A
ENST00000635804.1:n.561G>A
ENST00000635953.1:c.*549G>A	ENSP00000490058.1:n.*549G>A
ENST00000636155.1:c.838+3906G>A	ENSP00000490355.1:n.838+3906G>A
ENST00000636232.1:c.*913G>A	ENSP00000490325.1:n.*913G>A
ENST00000636754.1:c.*969G>A	ENSP00000489781.1:n.*969G>A
ENST00000636946.1:c.*1008-493G>A	ENSP00000490654.1:n.*1008-493G>A
ENST00000637037.1:c.*717G>A	ENSP00000490860.1:n.*717G>A
ENST00000637347.1:n.988G>A
ENST00000637611.1:c.*683G>A	ENSP00000489682.1:n.*683G>A
ENST00000637689.1:c.-245G>A	ENSP00000490496.1:n.-245G>A
ENST00000637925.1:c.*722G>A	ENSP00000489763.1:n.*722G>A
ENST00000638049.1:c.*885G>A	ENSP00000490597.1:n.*885G>A
ENST00000676175.1:n.2866G>A
ENST00000371413.4:c.839-493G>A	ENSP00000360467.3:n.839-493G>A
ENST00000371418.8:c.1127G>A	ENSP00000360472.4:p.Trp376Ter
ENST00000626307.1:n.5042G>A
ENST00000627420.2:c.*836G>A	ENSP00000487116.1:n.*836G>A
ENST00000629035.2:c.1055G>A	ENSP00000486908.1:p.Trp352Ter
ENST00000630047.2:c.983G>A	ENSP00000485917.1:p.Trp328Ter
NM_001308275.1:c.839-493G>A	NP_001295204.1:n.839-493G>A
NM_001308276.1:c.983G>A	NP_001295205.1:p.Trp328Ter
NM_005097.2:c.1127G>A	NP_005088.1:p.Trp376Ter
NM_005097.3:c.1127G>A	NP_005088.1:p.Trp376Ter
NR_131777.1:n.1391G>A
XM_017016912.2:c.695-493G>A	XP_016872401.1:n.695-493G>A
NM_005097.4:c.1127G>A MANE Select	NP_005088.1:p.Trp376Ter
NM_001308275.2:c.839-493G>A	NP_001295204.1:n.839-493G>A
NM_001308276.2:c.983G>A	NP_001295205.1:p.Trp328Ter
NR_131777.2:n.1264G>A

Linked Data

Genomic Alleles

Transcript Alleles