Canonical Allele Identifier: CA412894339

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48904862-G-C
• MyVariant Identifiers: chrX:g.48762139G>C (hg19) ; chrX:g.48904862G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904862G>C , CM000685.2:g.48904862G>C	GRCh38
NC_000023.10:g.48762139G>C , CM000685.1:g.48762139G>C	GRCh37
NC_000023.9:g.48647083G>C	NCBI36
NG_015967.1:g.11945G>C
NG_034300.1:g.12097C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1047C>G MANE Select	ENSP00000247138.5:p.Ala349=
ENST00000247138.10:c.1047C>G	ENSP00000247138.5:p.Ala349=
ENST00000376515.8:c.385C>G	ENSP00000365698.3:p.Leu129Val
ENST00000376521.6:c.1047C>G	ENSP00000365704.1:p.Ala349=
ENST00000376529.8:c.457C>G	ENSP00000365712.3:p.Leu153Val
ENST00000413561.7:c.609C>G
ENST00000445167.7:c.457C>G	ENSP00000402726.2:p.Leu153Val
ENST00000452555.7:c.1131C>G	ENSP00000416002.2:p.Ala377=
ENST00000616181.5:c.1086C>G	ENSP00000478617.1:p.Ala362=
ENST00000635285.1:c.1047C>G	ENSP00000489484.1:p.Ala349=
ENST00000635460.1:c.425-1397C>G
ENST00000635589.1:c.864C>G	ENSP00000489197.1:p.Ala288=
ENST00000635628.1:c.*941C>G	ENSP00000489613.1:n.*941C>G
NM_001032289.2:c.457C>G	NP_001027460.1:p.Leu153Val
NM_001042498.2:c.1047C>G	NP_001035963.1:p.Ala349=
NM_001282647.1:c.457C>G	NP_001269576.1:p.Leu153Val
NM_001282648.1:c.385C>G	NP_001269577.1:p.Leu129Val
NM_001282649.1:c.864C>G	NP_001269578.1:p.Ala288=
NM_001282650.1:c.1086C>G	NP_001269579.1:p.Ala362=
NM_001282651.1:c.1131C>G	NP_001269580.1:p.Ala377=
NM_005660.2:c.1047C>G	NP_005651.1:p.Ala349=
NM_005660.3:c.1047C>G MANE Select	NP_005651.1:p.Ala349=
NM_001032289.3:c.457C>G	NP_001027460.1:p.Leu153Val
NM_001042498.3:c.1047C>G	NP_001035963.1:p.Ala349=
NM_001282647.2:c.457C>G	NP_001269576.1:p.Leu153Val
NM_001282649.2:c.864C>G	NP_001269578.1:p.Ala288=
NM_001282650.2:c.1086C>G	NP_001269579.1:p.Ala362=
NM_001282651.2:c.1131C>G	NP_001269580.1:p.Ala377=
NM_001282648.2:c.385C>G	NP_001269577.1:p.Leu129Val