Canonical Allele Identifier: CA644085482
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1235692546
gnomAD v2: X-119761029-A-G
gnomAD v4: X-120627174-A-G
MyVariant Identifiers: chrX:g.119761029A>G (hg19) chrX:g.120627174A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627174A>G , CM000685.2:g.120627174A>G GRCh38
NC_000023.10:g.119761029A>G , CM000685.1:g.119761029A>G GRCh37
NC_000023.9:g.119645057A>G NCBI36
NG_016219.1:g.7977T>C

Transcript Alleles

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