Canonical Allele Identifier: CA412893734

Gene: SLC35A2

Linked Data

• dbSNP Id: rs369625853
• gnomAD v4: X-48904655-T-G
• MyVariant Identifiers: chrX:g.48761932T>G (hg19) ; chrX:g.48904655T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904655T>G , CM000685.2:g.48904655T>G	GRCh38
NC_000023.10:g.48761932T>G , CM000685.1:g.48761932T>G	GRCh37
NC_000023.9:g.48646876T>G	NCBI36
NG_015967.1:g.11738T>G
NG_034300.1:g.12304A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1163+91A>C MANE Select	ENSP00000247138.5:n.1163+91A>C
ENST00000247138.10:c.1163+91A>C	ENSP00000247138.5:n.1163+91A>C
ENST00000376515.8:c.592A>C	ENSP00000365698.3:p.Ser198Arg
ENST00000376521.6:c.*72A>C	ENSP00000365704.1:n.*72A>C
ENST00000376529.8:c.573+91A>C	ENSP00000365712.3:n.573+91A>C
ENST00000413561.7:c.816A>C
ENST00000445167.7:c.664A>C	ENSP00000402726.2:p.Ser222Arg
ENST00000452555.7:c.*72A>C	ENSP00000416002.2:n.*72A>C
ENST00000616181.5:c.*72A>C	ENSP00000478617.1:n.*72A>C
ENST00000635285.1:c.*72A>C	ENSP00000489484.1:n.*72A>C
ENST00000635460.1:c.425-1190A>C
ENST00000635589.1:c.*72A>C	ENSP00000489197.1:n.*72A>C
ENST00000635628.1:c.*1148A>C	ENSP00000489613.1:n.*1148A>C
NM_001032289.2:c.664A>C	NP_001027460.1:p.Ser222Arg
NM_001042498.2:c.*72A>C	NP_001035963.1:n.*72A>C
NM_001282647.1:c.573+91A>C	NP_001269576.1:n.573+91A>C
NM_001282648.1:c.592A>C	NP_001269577.1:p.Ser198Arg
NM_001282649.1:c.*72A>C	NP_001269578.1:n.*72A>C
NM_001282650.1:c.*72A>C	NP_001269579.1:n.*72A>C
NM_001282651.1:c.*72A>C	NP_001269580.1:n.*72A>C
NM_005660.2:c.1163+91A>C	NP_005651.1:n.1163+91A>C
NM_005660.3:c.1163+91A>C MANE Select	NP_005651.1:n.1163+91A>C
NM_001032289.3:c.664A>C	NP_001027460.1:p.Ser222Arg
NM_001042498.3:c.*72A>C	NP_001035963.1:n.*72A>C
NM_001282647.2:c.573+91A>C	NP_001269576.1:n.573+91A>C
NM_001282649.2:c.*72A>C	NP_001269578.1:n.*72A>C
NM_001282650.2:c.*72A>C	NP_001269579.1:n.*72A>C
NM_001282651.2:c.*72A>C	NP_001269580.1:n.*72A>C
NM_001282648.2:c.592A>C	NP_001269577.1:p.Ser198Arg