Canonical Allele Identifier: CA518448458
Gene: C1GALT1C1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.119760347A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626492A>T , CM000685.2:g.120626492A>T GRCh38
NC_000023.10:g.119760347A>T , CM000685.1:g.119760347A>T GRCh37
NC_000023.9:g.119644375A>T NCBI36
NG_016219.1:g.8659T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.675T>A MANE Select ENSP00000304364.5:p.Val225=
ENST00000304661.5:c.675T>A ENSP00000304364.5:p.Val225=
ENST00000371313.2:c.675T>A ENSP00000360363.2:p.Val225=
NM_001011551.2:c.675T>A NP_001011551.1:p.Val225=
NM_152692.4:c.675T>A NP_689905.1:p.Val225=
NM_001011551.3:c.675T>A MANE Select NP_001011551.1:p.Val225=
NM_152692.5:c.675T>A NP_689905.1:p.Val225=
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Search 100 bp 3'