Canonical Allele Identifier: CA644085486
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1221197318
gnomAD v2: X-119761096-T-A
gnomAD v3: X-120627241-T-A
gnomAD v4: X-120627241-T-A
MyVariant Identifiers: chrX:g.119761096T>A (hg19) chrX:g.120627241T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627241T>A , CM000685.2:g.120627241T>A GRCh38
NC_000023.10:g.119761096T>A , CM000685.1:g.119761096T>A GRCh37
NC_000023.9:g.119645124T>A NCBI36
NG_016219.1:g.7910A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.-5-70A>T MANE Select ENSP00000304364.5:n.-5-70A>T
ENST00000304661.5:c.-5-70A>T ENSP00000304364.5:n.-5-70A>T
ENST00000371313.2:c.-6+15A>T ENSP00000360363.2:n.-6+15A>T
NM_001011551.2:c.-5-70A>T NP_001011551.1:n.-5-70A>T
NM_152692.4:c.-6+15A>T NP_689905.1:n.-6+15A>T
NM_001011551.3:c.-5-70A>T MANE Select NP_001011551.1:n.-5-70A>T
NM_152692.5:c.-6+15A>T NP_689905.1:n.-6+15A>T
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