Canonical Allele Identifier: CA518448345
Gene: C1GALT1C1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.119760287T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626432T>G , CM000685.2:g.120626432T>G GRCh38
NC_000023.10:g.119760287T>G , CM000685.1:g.119760287T>G GRCh37
NC_000023.9:g.119644315T>G NCBI36
NG_016219.1:g.8719A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.735A>C MANE Select ENSP00000304364.5:p.Val245=
ENST00000304661.5:c.735A>C ENSP00000304364.5:p.Val245=
ENST00000371313.2:c.735A>C ENSP00000360363.2:p.Val245=
NM_001011551.2:c.735A>C NP_001011551.1:p.Val245=
NM_152692.4:c.735A>C NP_689905.1:p.Val245=
NM_001011551.3:c.735A>C MANE Select NP_001011551.1:p.Val245=
NM_152692.5:c.735A>C NP_689905.1:p.Val245=
Search 100 bp 5'
Search 100 bp 3'