Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71300171C= , CM000685.2:g.71300171C=	GRCh38
NC_000023.10:g.70520021C= , CM000685.1:g.70520021C=	GRCh37
NC_000023.9:g.70436746C=	NCBI36
NG_046742.1:g.21980C=
NG_054891.1:g.3897C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276079.13:c.*95C= MANE Select	ENSP00000276079.8:n.*95C=
ENST00000420903.6:c.*95C=	ENSP00000410299.2:n.*95C=
ENST00000473525.2:n.2219C=
ENST00000676495.1:n.2922C=
ENST00000676499.1:n.2467C=
ENST00000676797.1:c.*95C=	ENSP00000503920.1:n.*95C=
ENST00000677014.1:c.*1338C=	ENSP00000503813.1:n.*1338C=
ENST00000677218.1:n.2682C=
ENST00000677245.1:c.*1720C=	ENSP00000503929.1:n.*1720C=
ENST00000677274.1:c.*95C=	ENSP00000504314.1:n.*95C=
ENST00000677446.1:c.*95C=	ENSP00000503031.1:n.*95C=
ENST00000677612.1:c.*95C=	ENSP00000504351.1:n.*95C=
ENST00000677766.1:n.3916C=
ENST00000677826.1:n.2253C=
ENST00000677879.1:c.*95C=	ENSP00000504090.1:n.*95C=
ENST00000677977.1:n.3343C=
ENST00000678231.1:c.*95C=	ENSP00000503233.1:n.*95C=
ENST00000678323.1:n.2609C=
ENST00000678335.1:c.*424C=	ENSP00000503769.1:n.*424C=
ENST00000678437.1:c.*95C=	ENSP00000504007.1:n.*95C=
ENST00000678660.1:c.*95C=	ENSP00000504665.1:n.*95C=
ENST00000678830.1:c.*95C=	ENSP00000504263.1:n.*95C=
ENST00000679029.1:c.*325C=	ENSP00000504193.1:n.*325C=
ENST00000679267.1:n.3718C=
ENST00000276079.12:c.*95C=	ENSP00000276079.8:n.*95C=
ENST00000373841.5:c.*95C=	ENSP00000362947.1:n.*95C=
ENST00000373856.7:c.*95C=	ENSP00000362963.3:n.*95C=
ENST00000472185.1:n.61-348C=
ENST00000473525.1:n.1285C=
ENST00000474431.5:n.546C=
ENST00000490044.5:n.2218C=
ENST00000535149.5:c.*95C=	ENSP00000441364.1:n.*95C=
NM_001145408.1:c.*95C=	NP_001138880.1:n.*95C=
NM_001145409.1:c.*95C=	NP_001138881.1:n.*95C=
NM_001145410.1:c.*95C=	NP_001138882.1:n.*95C=
NM_007363.4:c.*95C=	NP_031389.3:n.*95C=
NM_007363.5:c.*95C= MANE Select	NP_031389.3:n.*95C=
NM_001145408.2:c.*95C=	NP_001138880.1:n.*95C=
NM_001145409.2:c.*95C=	NP_001138881.1:n.*95C=
NM_001145410.2:c.*95C=	NP_001138882.1:n.*95C=