Canonical Allele Identifier: CA10505997
Gene: C1GALT1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2863738
ClinVar RCV Id: RCV003623447
dbSNP Id: rs749791934
ExAC: X:119760887 T / C
gnomAD v2: X-119760887-T-C
gnomAD v3: X-120627032-T-C
gnomAD v4: X-120627032-T-C
MyVariant Identifiers: chrX:g.119760887T>C (hg19) chrX:g.120627032T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627032T>C , CM000685.2:g.120627032T>C GRCh38
NC_000023.10:g.119760887T>C , CM000685.1:g.119760887T>C GRCh37
NC_000023.9:g.119644915T>C NCBI36
NG_016219.1:g.8119A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.135A>G MANE Select ENSP00000304364.5:p.Gln45=
ENST00000304661.5:c.135A>G ENSP00000304364.5:p.Gln45=
ENST00000371313.2:c.135A>G ENSP00000360363.2:p.Gln45=
NM_001011551.2:c.135A>G NP_001011551.1:p.Gln45=
NM_152692.4:c.135A>G NP_689905.1:p.Gln45=
NM_001011551.3:c.135A>G MANE Select NP_001011551.1:p.Gln45=
NM_152692.5:c.135A>G NP_689905.1:p.Gln45=
Search 100 bp 5'
Search 100 bp 3'