Canonical Allele Identifier: CA2454930937

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626428T= , CM000685.2:g.120626428T=	GRCh38
NC_000023.10:g.119760283T= , CM000685.1:g.119760283T=	GRCh37
NC_000023.9:g.119644311T=	NCBI36
NG_016219.1:g.8723A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.739A= MANE Select	ENSP00000304364.5:p.Asn247=
ENST00000304661.5:c.739A=	ENSP00000304364.5:p.Asn247=
ENST00000371313.2:c.739A=	ENSP00000360363.2:p.Asn247=
NM_001011551.2:c.739A=	NP_001011551.1:p.Asn247=
NM_152692.4:c.739A=	NP_689905.1:p.Asn247=
NM_001011551.3:c.739A= MANE Select	NP_001011551.1:p.Asn247=
NM_152692.5:c.739A=	NP_689905.1:p.Asn247=