Canonical Allele Identifier: CA2454931008

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626579T= , CM000685.2:g.120626579T=	GRCh38
NC_000023.10:g.119760434T= , CM000685.1:g.119760434T=	GRCh37
NC_000023.9:g.119644462T=	NCBI36
NG_016219.1:g.8572A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.588A= MANE Select	ENSP00000304364.5:p.Arg196=
ENST00000304661.5:c.588A=	ENSP00000304364.5:p.Arg196=
ENST00000371313.2:c.588A=	ENSP00000360363.2:p.Arg196=
NM_001011551.2:c.588A=	NP_001011551.1:p.Arg196=
NM_152692.4:c.588A=	NP_689905.1:p.Arg196=
NM_001011551.3:c.588A= MANE Select	NP_001011551.1:p.Arg196=
NM_152692.5:c.588A=	NP_689905.1:p.Arg196=