Canonical Allele Identifier: CA414208124

Gene: C1GALT1C1

Linked Data

• gnomAD v4: X-120626597-A-C
• MyVariant Identifiers: chrX:g.119760452A>C (hg19) ; chrX:g.120626597A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626597A>C , CM000685.2:g.120626597A>C	GRCh38
NC_000023.10:g.119760452A>C , CM000685.1:g.119760452A>C	GRCh37
NC_000023.9:g.119644480A>C	NCBI36
NG_016219.1:g.8554T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.570T>G MANE Select	ENSP00000304364.5:p.Ser190Arg
ENST00000304661.5:c.570T>G	ENSP00000304364.5:p.Ser190Arg
ENST00000371313.2:c.570T>G	ENSP00000360363.2:p.Ser190Arg
NM_001011551.2:c.570T>G	NP_001011551.1:p.Ser190Arg
NM_152692.4:c.570T>G	NP_689905.1:p.Ser190Arg
NM_001011551.3:c.570T>G MANE Select	NP_001011551.1:p.Ser190Arg
NM_152692.5:c.570T>G	NP_689905.1:p.Ser190Arg