Canonical Allele Identifier: CA414208302
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1435096414
gnomAD v2: X-119760489-A-T
gnomAD v4: X-120626634-A-T
MyVariant Identifiers: chrX:g.119760489A>T (hg19) chrX:g.120626634A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626634A>T , CM000685.2:g.120626634A>T GRCh38
NC_000023.10:g.119760489A>T , CM000685.1:g.119760489A>T GRCh37
NC_000023.9:g.119644517A>T NCBI36
NG_016219.1:g.8517T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.533T>A MANE Select ENSP00000304364.5:p.Leu178His
ENST00000304661.5:c.533T>A ENSP00000304364.5:p.Leu178His
ENST00000371313.2:c.533T>A ENSP00000360363.2:p.Leu178His
NM_001011551.2:c.533T>A NP_001011551.1:p.Leu178His
NM_152692.4:c.533T>A NP_689905.1:p.Leu178His
NM_001011551.3:c.533T>A MANE Select NP_001011551.1:p.Leu178His
NM_152692.5:c.533T>A NP_689905.1:p.Leu178His
Search 100 bp 5'
Search 100 bp 3'