Canonical Allele Identifier: CA414210987
Gene: C1GALT1C1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.119761008C>G (hg19) chrX:g.120627153C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627153C>G , CM000685.2:g.120627153C>G GRCh38
NC_000023.10:g.119761008C>G , CM000685.1:g.119761008C>G GRCh37
NC_000023.9:g.119645036C>G NCBI36
NG_016219.1:g.7998G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.14G>C MANE Select ENSP00000304364.5:p.Ser5Thr
ENST00000304661.5:c.14G>C ENSP00000304364.5:p.Ser5Thr
ENST00000371313.2:c.14G>C ENSP00000360363.2:p.Ser5Thr
NM_001011551.2:c.14G>C NP_001011551.1:p.Ser5Thr
NM_152692.4:c.14G>C NP_689905.1:p.Ser5Thr
NM_001011551.3:c.14G>C MANE Select NP_001011551.1:p.Ser5Thr
NM_152692.5:c.14G>C NP_689905.1:p.Ser5Thr
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