Canonical Allele Identifier: CA414210169

Gene: C1GALT1C1

Linked Data

• MyVariant Identifiers: chrX:g.119760860T>A (hg19) ; chrX:g.120627005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627005T>A , CM000685.2:g.120627005T>A	GRCh38
NC_000023.10:g.119760860T>A , CM000685.1:g.119760860T>A	GRCh37
NC_000023.9:g.119644888T>A	NCBI36
NG_016219.1:g.8146A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.162A>T MANE Select	ENSP00000304364.5:p.Lys54Asn
ENST00000304661.5:c.162A>T	ENSP00000304364.5:p.Lys54Asn
ENST00000371313.2:c.162A>T	ENSP00000360363.2:p.Lys54Asn
NM_001011551.2:c.162A>T	NP_001011551.1:p.Lys54Asn
NM_152692.4:c.162A>T	NP_689905.1:p.Lys54Asn
NM_001011551.3:c.162A>T MANE Select	NP_001011551.1:p.Lys54Asn
NM_152692.5:c.162A>T	NP_689905.1:p.Lys54Asn