Canonical Allele Identifier: CA414208381
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1041939303
gnomAD v3: X-120626652-G-A
gnomAD v4: X-120626652-G-A
MyVariant Identifiers: chrX:g.119760507G>A (hg19) chrX:g.120626652G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626652G>A , CM000685.2:g.120626652G>A GRCh38
NC_000023.10:g.119760507G>A , CM000685.1:g.119760507G>A GRCh37
NC_000023.9:g.119644535G>A NCBI36
NG_016219.1:g.8499C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.515C>T MANE Select ENSP00000304364.5:p.Thr172Ile
ENST00000304661.5:c.515C>T ENSP00000304364.5:p.Thr172Ile
ENST00000371313.2:c.515C>T ENSP00000360363.2:p.Thr172Ile
NM_001011551.2:c.515C>T NP_001011551.1:p.Thr172Ile
NM_152692.4:c.515C>T NP_689905.1:p.Thr172Ile
NM_001011551.3:c.515C>T MANE Select NP_001011551.1:p.Thr172Ile
NM_152692.5:c.515C>T NP_689905.1:p.Thr172Ile
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