Canonical Allele Identifier: CA121175
Gene: C1GALT1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10793
ClinVar RCV Id: RCV000011540
dbSNP Id: rs137853599
MyVariant Identifiers: chrX:g.119760568C>T (hg19) chrX:g.120626713C>T (hg38)
PubMed: PMID:16251947
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626713C>T , CM000685.2:g.120626713C>T GRCh38
NC_000023.10:g.119760568C>T , CM000685.1:g.119760568C>T GRCh37
NC_000023.9:g.119644596C>T NCBI36
NG_016219.1:g.8438G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304661.6:c.454G>A MANE Select ENSP00000304364.5:p.Glu152Lys
ENST00000304661.5:c.454G>A ENSP00000304364.5:p.Glu152Lys
ENST00000371313.2:c.454G>A ENSP00000360363.2:p.Glu152Lys
NM_001011551.2:c.454G>A NP_001011551.1:p.Glu152Lys
NM_152692.4:c.454G>A NP_689905.1:p.Glu152Lys
NM_001011551.3:c.454G>A MANE Select NP_001011551.1:p.Glu152Lys
NM_152692.5:c.454G>A NP_689905.1:p.Glu152Lys
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