Canonical Allele Identifier: CA130368
Gene: C1GALT1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39573
ClinVar RCV Id: RCV000032773
dbSNP Id: rs397514537
MyVariant Identifiers: chrX:g.119760445A>G (hg19) chrX:g.120626590A>G (hg38)
PubMed: PMID:18537974
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626590A>G , CM000685.2:g.120626590A>G GRCh38
NC_000023.10:g.119760445A>G , CM000685.1:g.119760445A>G GRCh37
NC_000023.9:g.119644473A>G NCBI36
NG_016219.1:g.8561T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.577T>C MANE Select ENSP00000304364.5:p.Ser193Pro
ENST00000304661.5:c.577T>C ENSP00000304364.5:p.Ser193Pro
ENST00000371313.2:c.577T>C ENSP00000360363.2:p.Ser193Pro
NM_001011551.2:c.577T>C NP_001011551.1:p.Ser193Pro
NM_152692.4:c.577T>C NP_689905.1:p.Ser193Pro
NM_001011551.3:c.577T>C MANE Select NP_001011551.1:p.Ser193Pro
NM_152692.5:c.577T>C NP_689905.1:p.Ser193Pro
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