Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71300130C= , CM000685.2:g.71300130C=	GRCh38
NC_000023.10:g.70519980C= , CM000685.1:g.70519980C=	GRCh37
NC_000023.9:g.70436705C=	NCBI36
NG_046742.1:g.21939C=
NG_054891.1:g.3856C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276079.13:c.*54C= MANE Select	ENSP00000276079.8:n.*54C=
ENST00000420903.6:c.*54C=	ENSP00000410299.2:n.*54C=
ENST00000473525.2:n.2178C=
ENST00000676495.1:n.2881C=
ENST00000676499.1:n.2426C=
ENST00000676797.1:c.*54C=	ENSP00000503920.1:n.*54C=
ENST00000677014.1:c.*1297C=	ENSP00000503813.1:n.*1297C=
ENST00000677218.1:n.2641C=
ENST00000677245.1:c.*1679C=	ENSP00000503929.1:n.*1679C=
ENST00000677274.1:c.*54C=	ENSP00000504314.1:n.*54C=
ENST00000677446.1:c.*54C=	ENSP00000503031.1:n.*54C=
ENST00000677612.1:c.*54C=	ENSP00000504351.1:n.*54C=
ENST00000677766.1:n.3875C=
ENST00000677826.1:n.2212C=
ENST00000677879.1:c.*54C=	ENSP00000504090.1:n.*54C=
ENST00000677977.1:n.3302C=
ENST00000678231.1:c.*54C=	ENSP00000503233.1:n.*54C=
ENST00000678323.1:n.2568C=
ENST00000678335.1:c.*383C=	ENSP00000503769.1:n.*383C=
ENST00000678437.1:c.*54C=	ENSP00000504007.1:n.*54C=
ENST00000678660.1:c.*54C=	ENSP00000504665.1:n.*54C=
ENST00000678830.1:c.*54C=	ENSP00000504263.1:n.*54C=
ENST00000679029.1:c.*284C=	ENSP00000504193.1:n.*284C=
ENST00000679267.1:n.3677C=
ENST00000276079.12:c.*54C=	ENSP00000276079.8:n.*54C=
ENST00000373841.5:c.*54C=	ENSP00000362947.1:n.*54C=
ENST00000373856.7:c.*54C=	ENSP00000362963.3:n.*54C=
ENST00000472185.1:n.61-389C=
ENST00000473525.1:n.1244C=
ENST00000474431.5:n.505C=
ENST00000490044.5:n.2177C=
ENST00000535149.5:c.*54C=	ENSP00000441364.1:n.*54C=
NM_001145408.1:c.*54C=	NP_001138880.1:n.*54C=
NM_001145409.1:c.*54C=	NP_001138881.1:n.*54C=
NM_001145410.1:c.*54C=	NP_001138882.1:n.*54C=
NM_007363.4:c.*54C=	NP_031389.3:n.*54C=
NM_007363.5:c.*54C= MANE Select	NP_031389.3:n.*54C=
NM_001145408.2:c.*54C=	NP_001138880.1:n.*54C=
NM_001145409.2:c.*54C=	NP_001138881.1:n.*54C=
NM_001145410.2:c.*54C=	NP_001138882.1:n.*54C=