Canonical Allele Identifier: CA2454931014

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627127G= , CM000685.2:g.120627127G=	GRCh38
NC_000023.10:g.119760982G= , CM000685.1:g.119760982G=	GRCh37
NC_000023.9:g.119645010G=	NCBI36
NG_016219.1:g.8024C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.40C= MANE Select	ENSP00000304364.5:p.Leu14=
ENST00000304661.5:c.40C=	ENSP00000304364.5:p.Leu14=
ENST00000371313.2:c.40C=	ENSP00000360363.2:p.Leu14=
NM_001011551.2:c.40C=	NP_001011551.1:p.Leu14=
NM_152692.4:c.40C=	NP_689905.1:p.Leu14=
NM_001011551.3:c.40C= MANE Select	NP_001011551.1:p.Leu14=
NM_152692.5:c.40C=	NP_689905.1:p.Leu14=