Canonical Allele Identifier: CA334144935

Gene: C1GALT1C1

Linked Data

• dbSNP Id: rs368394798
• MyVariant Identifiers: chrX:g.119760428G>C (hg19) ; chrX:g.120626573G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626573G>C , CM000685.2:g.120626573G>C	GRCh38
NC_000023.10:g.119760428G>C , CM000685.1:g.119760428G>C	GRCh37
NC_000023.9:g.119644456G>C	NCBI36
NG_016219.1:g.8578C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.594C>G MANE Select	ENSP00000304364.5:p.Asn198Lys
ENST00000304661.5:c.594C>G	ENSP00000304364.5:p.Asn198Lys
ENST00000371313.2:c.594C>G	ENSP00000360363.2:p.Asn198Lys
NM_001011551.2:c.594C>G	NP_001011551.1:p.Asn198Lys
NM_152692.4:c.594C>G	NP_689905.1:p.Asn198Lys
NM_001011551.3:c.594C>G MANE Select	NP_001011551.1:p.Asn198Lys
NM_152692.5:c.594C>G	NP_689905.1:p.Asn198Lys