Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71300174A= , CM000685.2:g.71300174A=	GRCh38
NC_000023.10:g.70520024A= , CM000685.1:g.70520024A=	GRCh37
NC_000023.9:g.70436749A=	NCBI36
NG_046742.1:g.21983A=
NG_054891.1:g.3900A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276079.13:c.*98A= MANE Select	ENSP00000276079.8:n.*98A=
ENST00000420903.6:c.*98A=	ENSP00000410299.2:n.*98A=
ENST00000473525.2:n.2222A=
ENST00000676495.1:n.2925A=
ENST00000676499.1:n.2470A=
ENST00000676797.1:c.*98A=	ENSP00000503920.1:n.*98A=
ENST00000677014.1:c.*1341A=	ENSP00000503813.1:n.*1341A=
ENST00000677218.1:n.2685A=
ENST00000677245.1:c.*1723A=	ENSP00000503929.1:n.*1723A=
ENST00000677274.1:c.*98A=	ENSP00000504314.1:n.*98A=
ENST00000677446.1:c.*98A=	ENSP00000503031.1:n.*98A=
ENST00000677612.1:c.*98A=	ENSP00000504351.1:n.*98A=
ENST00000677766.1:n.3919A=
ENST00000677826.1:n.2256A=
ENST00000677879.1:c.*98A=	ENSP00000504090.1:n.*98A=
ENST00000677977.1:n.3346A=
ENST00000678231.1:c.*98A=	ENSP00000503233.1:n.*98A=
ENST00000678323.1:n.2612A=
ENST00000678335.1:c.*427A=	ENSP00000503769.1:n.*427A=
ENST00000678437.1:c.*98A=	ENSP00000504007.1:n.*98A=
ENST00000678660.1:c.*98A=	ENSP00000504665.1:n.*98A=
ENST00000678830.1:c.*98A=	ENSP00000504263.1:n.*98A=
ENST00000679029.1:c.*328A=	ENSP00000504193.1:n.*328A=
ENST00000679267.1:n.3721A=
ENST00000276079.12:c.*98A=	ENSP00000276079.8:n.*98A=
ENST00000373841.5:c.*98A=	ENSP00000362947.1:n.*98A=
ENST00000373856.7:c.*98A=	ENSP00000362963.3:n.*98A=
ENST00000472185.1:n.61-345A=
ENST00000473525.1:n.1288A=
ENST00000474431.5:n.549A=
ENST00000490044.5:n.2221A=
ENST00000535149.5:c.*98A=	ENSP00000441364.1:n.*98A=
NM_001145408.1:c.*98A=	NP_001138880.1:n.*98A=
NM_001145409.1:c.*98A=	NP_001138881.1:n.*98A=
NM_001145410.1:c.*98A=	NP_001138882.1:n.*98A=
NM_007363.4:c.*98A=	NP_031389.3:n.*98A=
NM_007363.5:c.*98A= MANE Select	NP_031389.3:n.*98A=
NM_001145408.2:c.*98A=	NP_001138880.1:n.*98A=
NM_001145409.2:c.*98A=	NP_001138881.1:n.*98A=
NM_001145410.2:c.*98A=	NP_001138882.1:n.*98A=