Canonical Allele Identifier: CA414207147

Gene: C1GALT1C1

Linked Data

• gnomAD v4: X-120626427-T-A
• MyVariant Identifiers: chrX:g.119760282T>A (hg19) ; chrX:g.120626427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626427T>A , CM000685.2:g.120626427T>A	GRCh38
NC_000023.10:g.119760282T>A , CM000685.1:g.119760282T>A	GRCh37
NC_000023.9:g.119644310T>A	NCBI36
NG_016219.1:g.8724A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.740A>T MANE Select	ENSP00000304364.5:p.Asn247Ile
ENST00000304661.5:c.740A>T	ENSP00000304364.5:p.Asn247Ile
ENST00000371313.2:c.740A>T	ENSP00000360363.2:p.Asn247Ile
NM_001011551.2:c.740A>T	NP_001011551.1:p.Asn247Ile
NM_152692.4:c.740A>T	NP_689905.1:p.Asn247Ile
NM_001011551.3:c.740A>T MANE Select	NP_001011551.1:p.Asn247Ile
NM_152692.5:c.740A>T	NP_689905.1:p.Asn247Ile