Canonical Allele Identifier: CA10406065

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 754204
• ClinVar RCV Id: RCV001523443
• dbSNP Id: rs376547003
• ExAC: X:48762123 C / T
• gnomAD v2: X-48762123-C-T
• gnomAD v3: X-48904846-C-T
• gnomAD v4: X-48904846-C-T
• COSMIC: COSM1122223 ; COSM1155401 ; COSM3694613 ; COSM3694614 ; COSM5175148
• MyVariant Identifiers: chrX:g.48762123C>T (hg19) ; chrX:g.48904846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904846C>T , CM000685.2:g.48904846C>T	GRCh38
NC_000023.10:g.48762123C>T , CM000685.1:g.48762123C>T	GRCh37
NC_000023.9:g.48647067C>T	NCBI36
NG_015967.1:g.11929C>T
NG_034300.1:g.12113G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.1063G>A MANE Select	ENSP00000247138.5:p.Ala355Thr
ENST00000247138.10:c.1063G>A	ENSP00000247138.5:p.Ala355Thr
ENST00000376515.8:c.401G>A	ENSP00000365698.3:p.Arg134His
ENST00000376521.6:c.1063G>A	ENSP00000365704.1:p.Ala355Thr
ENST00000376529.8:c.473G>A	ENSP00000365712.3:p.Arg158His
ENST00000413561.7:c.625G>A
ENST00000445167.7:c.473G>A	ENSP00000402726.2:p.Arg158His
ENST00000452555.7:c.1147G>A	ENSP00000416002.2:p.Ala383Thr
ENST00000616181.5:c.1102G>A	ENSP00000478617.1:p.Ala368Thr
ENST00000635285.1:c.1063G>A	ENSP00000489484.1:p.Ala355Thr
ENST00000635460.1:c.425-1381G>A
ENST00000635589.1:c.880G>A	ENSP00000489197.1:p.Ala294Thr
ENST00000635628.1:c.*957G>A	ENSP00000489613.1:n.*957G>A
NM_001032289.2:c.473G>A	NP_001027460.1:p.Arg158His
NM_001042498.2:c.1063G>A	NP_001035963.1:p.Ala355Thr
NM_001282647.1:c.473G>A	NP_001269576.1:p.Arg158His
NM_001282648.1:c.401G>A	NP_001269577.1:p.Arg134His
NM_001282649.1:c.880G>A	NP_001269578.1:p.Ala294Thr
NM_001282650.1:c.1102G>A	NP_001269579.1:p.Ala368Thr
NM_001282651.1:c.1147G>A	NP_001269580.1:p.Ala383Thr
NM_005660.2:c.1063G>A	NP_005651.1:p.Ala355Thr
NM_005660.3:c.1063G>A MANE Select	NP_005651.1:p.Ala355Thr
NM_001032289.3:c.473G>A	NP_001027460.1:p.Arg158His
NM_001042498.3:c.1063G>A	NP_001035963.1:p.Ala355Thr
NM_001282647.2:c.473G>A	NP_001269576.1:p.Arg158His
NM_001282649.2:c.880G>A	NP_001269578.1:p.Ala294Thr
NM_001282650.2:c.1102G>A	NP_001269579.1:p.Ala368Thr
NM_001282651.2:c.1147G>A	NP_001269580.1:p.Ala383Thr
NM_001282648.2:c.401G>A	NP_001269577.1:p.Arg134His