Canonical Allele Identifier: CA414210961
Gene: C1GALT1C1 HGNC NCBI

Linked Data

gnomAD v4: X-120627148-A-T
MyVariant Identifiers: chrX:g.119761003A>T (hg19) chrX:g.120627148A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627148A>T , CM000685.2:g.120627148A>T GRCh38
NC_000023.10:g.119761003A>T , CM000685.1:g.119761003A>T GRCh37
NC_000023.9:g.119645031A>T NCBI36
NG_016219.1:g.8003T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.19T>A MANE Select ENSP00000304364.5:p.Ser7Thr
ENST00000304661.5:c.19T>A ENSP00000304364.5:p.Ser7Thr
ENST00000371313.2:c.19T>A ENSP00000360363.2:p.Ser7Thr
NM_001011551.2:c.19T>A NP_001011551.1:p.Ser7Thr
NM_152692.4:c.19T>A NP_689905.1:p.Ser7Thr
NM_001011551.3:c.19T>A MANE Select NP_001011551.1:p.Ser7Thr
NM_152692.5:c.19T>A NP_689905.1:p.Ser7Thr
Search 100 bp 5'
Search 100 bp 3'