Canonical Allele Identifier: CA10505952
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs779799135
ExAC: X:119760431 A / G
gnomAD v2: X-119760431-A-G
gnomAD v4: X-120626576-A-G
MyVariant Identifiers: chrX:g.119760431A>G (hg19) chrX:g.120626576A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626576A>G , CM000685.2:g.120626576A>G GRCh38
NC_000023.10:g.119760431A>G , CM000685.1:g.119760431A>G GRCh37
NC_000023.9:g.119644459A>G NCBI36
NG_016219.1:g.8575T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.591T>C MANE Select ENSP00000304364.5:p.Leu197=
ENST00000304661.5:c.591T>C ENSP00000304364.5:p.Leu197=
ENST00000371313.2:c.591T>C ENSP00000360363.2:p.Leu197=
NM_001011551.2:c.591T>C NP_001011551.1:p.Leu197=
NM_152692.4:c.591T>C NP_689905.1:p.Leu197=
NM_001011551.3:c.591T>C MANE Select NP_001011551.1:p.Leu197=
NM_152692.5:c.591T>C NP_689905.1:p.Leu197=
Search 100 bp 5'
Search 100 bp 3'