Canonical Allele Identifier: CA10506011
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs750063627
ExAC: X:119761014 G / A
gnomAD v2: X-119761014-G-A
gnomAD v3: X-120627159-G-A
gnomAD v4: X-120627159-G-A
MyVariant Identifiers: chrX:g.119761014G>A (hg19) chrX:g.120627159G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627159G>A , CM000685.2:g.120627159G>A GRCh38
NC_000023.10:g.119761014G>A , CM000685.1:g.119761014G>A GRCh37
NC_000023.9:g.119645042G>A NCBI36
NG_016219.1:g.7992C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.8C>T MANE Select ENSP00000304364.5:p.Ser3Phe
ENST00000304661.5:c.8C>T ENSP00000304364.5:p.Ser3Phe
ENST00000371313.2:c.8C>T ENSP00000360363.2:p.Ser3Phe
NM_001011551.2:c.8C>T NP_001011551.1:p.Ser3Phe
NM_152692.4:c.8C>T NP_689905.1:p.Ser3Phe
NM_001011551.3:c.8C>T MANE Select NP_001011551.1:p.Ser3Phe
NM_152692.5:c.8C>T NP_689905.1:p.Ser3Phe
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