Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71300157G= , CM000685.2:g.71300157G=	GRCh38
NC_000023.10:g.70520007G= , CM000685.1:g.70520007G=	GRCh37
NC_000023.9:g.70436732G=	NCBI36
NG_046742.1:g.21966G=
NG_054891.1:g.3883G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276079.13:c.*81G= MANE Select	ENSP00000276079.8:n.*81G=
ENST00000420903.6:c.*81G=	ENSP00000410299.2:n.*81G=
ENST00000473525.2:n.2205G=
ENST00000676495.1:n.2908G=
ENST00000676499.1:n.2453G=
ENST00000676797.1:c.*81G=	ENSP00000503920.1:n.*81G=
ENST00000677014.1:c.*1324G=	ENSP00000503813.1:n.*1324G=
ENST00000677218.1:n.2668G=
ENST00000677245.1:c.*1706G=	ENSP00000503929.1:n.*1706G=
ENST00000677274.1:c.*81G=	ENSP00000504314.1:n.*81G=
ENST00000677446.1:c.*81G=	ENSP00000503031.1:n.*81G=
ENST00000677612.1:c.*81G=	ENSP00000504351.1:n.*81G=
ENST00000677766.1:n.3902G=
ENST00000677826.1:n.2239G=
ENST00000677879.1:c.*81G=	ENSP00000504090.1:n.*81G=
ENST00000677977.1:n.3329G=
ENST00000678231.1:c.*81G=	ENSP00000503233.1:n.*81G=
ENST00000678323.1:n.2595G=
ENST00000678335.1:c.*410G=	ENSP00000503769.1:n.*410G=
ENST00000678437.1:c.*81G=	ENSP00000504007.1:n.*81G=
ENST00000678660.1:c.*81G=	ENSP00000504665.1:n.*81G=
ENST00000678830.1:c.*81G=	ENSP00000504263.1:n.*81G=
ENST00000679029.1:c.*311G=	ENSP00000504193.1:n.*311G=
ENST00000679267.1:n.3704G=
ENST00000276079.12:c.*81G=	ENSP00000276079.8:n.*81G=
ENST00000373841.5:c.*81G=	ENSP00000362947.1:n.*81G=
ENST00000373856.7:c.*81G=	ENSP00000362963.3:n.*81G=
ENST00000472185.1:n.61-362G=
ENST00000473525.1:n.1271G=
ENST00000474431.5:n.532G=
ENST00000490044.5:n.2204G=
ENST00000535149.5:c.*81G=	ENSP00000441364.1:n.*81G=
NM_001145408.1:c.*81G=	NP_001138880.1:n.*81G=
NM_001145409.1:c.*81G=	NP_001138881.1:n.*81G=
NM_001145410.1:c.*81G=	NP_001138882.1:n.*81G=
NM_007363.4:c.*81G=	NP_031389.3:n.*81G=
NM_007363.5:c.*81G= MANE Select	NP_031389.3:n.*81G=
NM_001145408.2:c.*81G=	NP_001138880.1:n.*81G=
NM_001145409.2:c.*81G=	NP_001138881.1:n.*81G=
NM_001145410.2:c.*81G=	NP_001138882.1:n.*81G=