Canonical Allele Identifier: CA10505933
Gene: C1GALT1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2605789
ClinVar RCV Id: RCV004350812
dbSNP Id: rs146957987
ExAC: X:119760267 C / T
gnomAD v2: X-119760267-C-T
gnomAD v3: X-120626412-C-T
gnomAD v4: X-120626412-C-T
MyVariant Identifiers: chrX:g.119760267C>T (hg19) chrX:g.120626412C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626412C>T , CM000685.2:g.120626412C>T GRCh38
NC_000023.10:g.119760267C>T , CM000685.1:g.119760267C>T GRCh37
NC_000023.9:g.119644295C>T NCBI36
NG_016219.1:g.8739G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.755G>A MANE Select ENSP00000304364.5:p.Gly252Glu
ENST00000304661.5:c.755G>A ENSP00000304364.5:p.Gly252Glu
ENST00000371313.2:c.755G>A ENSP00000360363.2:p.Gly252Glu
NM_001011551.2:c.755G>A NP_001011551.1:p.Gly252Glu
NM_152692.4:c.755G>A NP_689905.1:p.Gly252Glu
NM_001011551.3:c.755G>A MANE Select NP_001011551.1:p.Gly252Glu
NM_152692.5:c.755G>A NP_689905.1:p.Gly252Glu
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