Canonical Allele Identifier: CA414210984

Gene: C1GALT1C1

Linked Data

• gnomAD v4: X-120627153-C-A
• MyVariant Identifiers: chrX:g.119761008C>A (hg19) ; chrX:g.120627153C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.14G>T MANE Select	ENSP00000304364.5:p.Ser5Ile
ENST00000304661.5:c.14G>T	ENSP00000304364.5:p.Ser5Ile
ENST00000371313.2:c.14G>T	ENSP00000360363.2:p.Ser5Ile
NM_001011551.2:c.14G>T	NP_001011551.1:p.Ser5Ile
NM_152692.4:c.14G>T	NP_689905.1:p.Ser5Ile
NM_001011551.3:c.14G>T MANE Select	NP_001011551.1:p.Ser5Ile
NM_152692.5:c.14G>T	NP_689905.1:p.Ser5Ile