Canonical Allele Identifier: CA518226114

Gene: C1GALT1C1

Linked Data

• gnomAD v4: X-120627161-A-G
• MyVariant Identifiers: chrX:g.119761016A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627161A>G , CM000685.2:g.120627161A>G	GRCh38
NC_000023.10:g.119761016A>G , CM000685.1:g.119761016A>G	GRCh37
NC_000023.9:g.119645044A>G	NCBI36
NG_016219.1:g.7990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.6T>C MANE Select	ENSP00000304364.5:p.Leu2=
ENST00000304661.5:c.6T>C	ENSP00000304364.5:p.Leu2=
ENST00000371313.2:c.6T>C	ENSP00000360363.2:p.Leu2=
NM_001011551.2:c.6T>C	NP_001011551.1:p.Leu2=
NM_152692.4:c.6T>C	NP_689905.1:p.Leu2=
NM_001011551.3:c.6T>C MANE Select	NP_001011551.1:p.Leu2=
NM_152692.5:c.6T>C	NP_689905.1:p.Leu2=