Canonical Allele Identifier: CA2454931044

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627221C= , CM000685.2:g.120627221C=	GRCh38
NC_000023.10:g.119761076C= , CM000685.1:g.119761076C=	GRCh37
NC_000023.9:g.119645104C=	NCBI36
NG_016219.1:g.7930G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-50G= MANE Select	ENSP00000304364.5:n.-5-50G=
ENST00000304661.5:c.-5-50G=	ENSP00000304364.5:n.-5-50G=
ENST00000371313.2:c.-6+35G=	ENSP00000360363.2:n.-6+35G=
NM_001011551.2:c.-5-50G=	NP_001011551.1:n.-5-50G=
NM_152692.4:c.-6+35G=	NP_689905.1:n.-6+35G=
NM_001011551.3:c.-5-50G= MANE Select	NP_001011551.1:n.-5-50G=
NM_152692.5:c.-6+35G=	NP_689905.1:n.-6+35G=