Canonical Allele Identifier: CA10506016
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs779319811
ExAC: X:119761069 G / T
gnomAD v4: X-120627214-G-T
MyVariant Identifiers: chrX:g.119761069G>T (hg19) chrX:g.120627214G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627214G>T , CM000685.2:g.120627214G>T GRCh38
NC_000023.10:g.119761069G>T , CM000685.1:g.119761069G>T GRCh37
NC_000023.9:g.119645097G>T NCBI36
NG_016219.1:g.7937C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.-5-43C>A MANE Select ENSP00000304364.5:n.-5-43C>A
ENST00000304661.5:c.-5-43C>A ENSP00000304364.5:n.-5-43C>A
ENST00000371313.2:c.-5-43C>A ENSP00000360363.2:n.-5-43C>A
NM_001011551.2:c.-5-43C>A NP_001011551.1:n.-5-43C>A
NM_152692.4:c.-5-43C>A NP_689905.1:n.-5-43C>A
NM_001011551.3:c.-5-43C>A MANE Select NP_001011551.1:n.-5-43C>A
NM_152692.5:c.-5-43C>A NP_689905.1:n.-5-43C>A
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