Canonical Allele Identifier: CA412894033

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48904779-C-A
• MyVariant Identifiers: chrX:g.48762056C>A (hg19) ; chrX:g.48904779C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904779C>A , CM000685.2:g.48904779C>A	GRCh38
NC_000023.10:g.48762056C>A , CM000685.1:g.48762056C>A	GRCh37
NC_000023.9:g.48647000C>A	NCBI36
NG_015967.1:g.11862C>A
NG_034300.1:g.12180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1130G>T MANE Select	ENSP00000247138.5:p.Arg377Leu
ENST00000247138.10:c.1130G>T	ENSP00000247138.5:p.Arg377Leu
ENST00000376515.8:c.468G>T	ENSP00000365698.3:p.Pro156=
ENST00000376521.6:c.1130G>T	ENSP00000365704.1:p.Arg377Leu
ENST00000376529.8:c.540G>T	ENSP00000365712.3:p.Pro180=
ENST00000413561.7:c.692G>T
ENST00000445167.7:c.540G>T	ENSP00000402726.2:p.Pro180=
ENST00000452555.7:c.1214G>T	ENSP00000416002.2:p.Arg405Leu
ENST00000616181.5:c.1169G>T	ENSP00000478617.1:p.Arg390Leu
ENST00000635285.1:c.1130G>T	ENSP00000489484.1:p.Arg377Leu
ENST00000635460.1:c.425-1314G>T
ENST00000635589.1:c.947G>T	ENSP00000489197.1:p.Arg316Leu
ENST00000635628.1:c.*1024G>T	ENSP00000489613.1:n.*1024G>T
NM_001032289.2:c.540G>T	NP_001027460.1:p.Pro180=
NM_001042498.2:c.1130G>T	NP_001035963.1:p.Arg377Leu
NM_001282647.1:c.540G>T	NP_001269576.1:p.Pro180=
NM_001282648.1:c.468G>T	NP_001269577.1:p.Pro156=
NM_001282649.1:c.947G>T	NP_001269578.1:p.Arg316Leu
NM_001282650.1:c.1169G>T	NP_001269579.1:p.Arg390Leu
NM_001282651.1:c.1214G>T	NP_001269580.1:p.Arg405Leu
NM_005660.2:c.1130G>T	NP_005651.1:p.Arg377Leu
NM_005660.3:c.1130G>T MANE Select	NP_005651.1:p.Arg377Leu
NM_001032289.3:c.540G>T	NP_001027460.1:p.Pro180=
NM_001042498.3:c.1130G>T	NP_001035963.1:p.Arg377Leu
NM_001282647.2:c.540G>T	NP_001269576.1:p.Pro180=
NM_001282649.2:c.947G>T	NP_001269578.1:p.Arg316Leu
NM_001282650.2:c.1169G>T	NP_001269579.1:p.Arg390Leu
NM_001282651.2:c.1214G>T	NP_001269580.1:p.Arg405Leu
NM_001282648.2:c.468G>T	NP_001269577.1:p.Pro156=