Canonical Allele Identifier: CA414207145

Gene: C1GALT1C1

Linked Data

• MyVariant Identifiers: chrX:g.119760281A>T (hg19) ; chrX:g.120626426A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626426A>T , CM000685.2:g.120626426A>T	GRCh38
NC_000023.10:g.119760281A>T , CM000685.1:g.119760281A>T	GRCh37
NC_000023.9:g.119644309A>T	NCBI36
NG_016219.1:g.8725T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.741T>A MANE Select	ENSP00000304364.5:p.Asn247Lys
ENST00000304661.5:c.741T>A	ENSP00000304364.5:p.Asn247Lys
ENST00000371313.2:c.741T>A	ENSP00000360363.2:p.Asn247Lys
NM_001011551.2:c.741T>A	NP_001011551.1:p.Asn247Lys
NM_152692.4:c.741T>A	NP_689905.1:p.Asn247Lys
NM_001011551.3:c.741T>A MANE Select	NP_001011551.1:p.Asn247Lys
NM_152692.5:c.741T>A	NP_689905.1:p.Asn247Lys