Canonical Allele Identifier: CA414210943
Gene: C1GALT1C1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.119760999A>T (hg19) chrX:g.120627144A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627144A>T , CM000685.2:g.120627144A>T GRCh38
NC_000023.10:g.119760999A>T , CM000685.1:g.119760999A>T GRCh37
NC_000023.9:g.119645027A>T NCBI36
NG_016219.1:g.8007T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.23T>A MANE Select ENSP00000304364.5:p.Phe8Tyr
ENST00000304661.5:c.23T>A ENSP00000304364.5:p.Phe8Tyr
ENST00000371313.2:c.23T>A ENSP00000360363.2:p.Phe8Tyr
NM_001011551.2:c.23T>A NP_001011551.1:p.Phe8Tyr
NM_152692.4:c.23T>A NP_689905.1:p.Phe8Tyr
NM_001011551.3:c.23T>A MANE Select NP_001011551.1:p.Phe8Tyr
NM_152692.5:c.23T>A NP_689905.1:p.Phe8Tyr
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