Canonical Allele Identifier: CA414207279
Gene: C1GALT1C1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.119760299A>C (hg19) chrX:g.120626444A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626444A>C , CM000685.2:g.120626444A>C GRCh38
NC_000023.10:g.119760299A>C , CM000685.1:g.119760299A>C GRCh37
NC_000023.9:g.119644327A>C NCBI36
NG_016219.1:g.8707T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.723T>G MANE Select ENSP00000304364.5:p.Asp241Glu
ENST00000304661.5:c.723T>G ENSP00000304364.5:p.Asp241Glu
ENST00000371313.2:c.723T>G ENSP00000360363.2:p.Asp241Glu
NM_001011551.2:c.723T>G NP_001011551.1:p.Asp241Glu
NM_152692.4:c.723T>G NP_689905.1:p.Asp241Glu
NM_001011551.3:c.723T>G MANE Select NP_001011551.1:p.Asp241Glu
NM_152692.5:c.723T>G NP_689905.1:p.Asp241Glu
Search 100 bp 5'
Search 100 bp 3'