Canonical Allele Identifier: CA414208082
Gene: C1GALT1C1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.119760442T>C (hg19) chrX:g.120626587T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626587T>C , CM000685.2:g.120626587T>C GRCh38
NC_000023.10:g.119760442T>C , CM000685.1:g.119760442T>C GRCh37
NC_000023.9:g.119644470T>C NCBI36
NG_016219.1:g.8564A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.580A>G MANE Select ENSP00000304364.5:p.Met194Val
ENST00000304661.5:c.580A>G ENSP00000304364.5:p.Met194Val
ENST00000371313.2:c.580A>G ENSP00000360363.2:p.Met194Val
NM_001011551.2:c.580A>G NP_001011551.1:p.Met194Val
NM_152692.4:c.580A>G NP_689905.1:p.Met194Val
NM_001011551.3:c.580A>G MANE Select NP_001011551.1:p.Met194Val
NM_152692.5:c.580A>G NP_689905.1:p.Met194Val
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