Canonical Allele Identifier: CA2454930838

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626721G= , CM000685.2:g.120626721G=	GRCh38
NC_000023.10:g.119760576G= , CM000685.1:g.119760576G=	GRCh37
NC_000023.9:g.119644604G=	NCBI36
NG_016219.1:g.8430C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.446C= MANE Select	ENSP00000304364.5:p.Ala149=
ENST00000304661.5:c.446C=	ENSP00000304364.5:p.Ala149=
ENST00000371313.2:c.446C=	ENSP00000360363.2:p.Ala149=
NM_001011551.2:c.446C=	NP_001011551.1:p.Ala149=
NM_152692.4:c.446C=	NP_689905.1:p.Ala149=
NM_001011551.3:c.446C= MANE Select	NP_001011551.1:p.Ala149=
NM_152692.5:c.446C=	NP_689905.1:p.Ala149=