Canonical Allele Identifier: CA518448586
Gene: C1GALT1C1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.119760962A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627107A>T , CM000685.2:g.120627107A>T GRCh38
NC_000023.10:g.119760962A>T , CM000685.1:g.119760962A>T GRCh37
NC_000023.9:g.119644990A>T NCBI36
NG_016219.1:g.8044T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.60T>A MANE Select ENSP00000304364.5:p.Ala20=
ENST00000304661.5:c.60T>A ENSP00000304364.5:p.Ala20=
ENST00000371313.2:c.60T>A ENSP00000360363.2:p.Ala20=
NM_001011551.2:c.60T>A NP_001011551.1:p.Ala20=
NM_152692.4:c.60T>A NP_689905.1:p.Ala20=
NM_001011551.3:c.60T>A MANE Select NP_001011551.1:p.Ala20=
NM_152692.5:c.60T>A NP_689905.1:p.Ala20=
Search 100 bp 5'
Search 100 bp 3'