Canonical Allele Identifier: CA412894197

Gene: SLC35A2

Linked Data

• dbSNP Id: rs1557042681
• gnomAD v2: X-48762115-C-A
• gnomAD v4: X-48904838-C-A
• MyVariant Identifiers: chrX:g.48762115C>A (hg19) ; chrX:g.48904838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904838C>A , CM000685.2:g.48904838C>A	GRCh38
NC_000023.10:g.48762115C>A , CM000685.1:g.48762115C>A	GRCh37
NC_000023.9:g.48647059C>A	NCBI36
NG_015967.1:g.11921C>A
NG_034300.1:g.12121G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1071G>T MANE Select	ENSP00000247138.5:p.Gly357=
ENST00000247138.10:c.1071G>T	ENSP00000247138.5:p.Gly357=
ENST00000376515.8:c.409G>T	ENSP00000365698.3:p.Ala137Ser
ENST00000376521.6:c.1071G>T	ENSP00000365704.1:p.Gly357=
ENST00000376529.8:c.481G>T	ENSP00000365712.3:p.Ala161Ser
ENST00000413561.7:c.633G>T
ENST00000445167.7:c.481G>T	ENSP00000402726.2:p.Ala161Ser
ENST00000452555.7:c.1155G>T	ENSP00000416002.2:p.Gly385=
ENST00000616181.5:c.1110G>T	ENSP00000478617.1:p.Gly370=
ENST00000635285.1:c.1071G>T	ENSP00000489484.1:p.Gly357=
ENST00000635460.1:c.425-1373G>T
ENST00000635589.1:c.888G>T	ENSP00000489197.1:p.Gly296=
ENST00000635628.1:c.*965G>T	ENSP00000489613.1:n.*965G>T
NM_001032289.2:c.481G>T	NP_001027460.1:p.Ala161Ser
NM_001042498.2:c.1071G>T	NP_001035963.1:p.Gly357=
NM_001282647.1:c.481G>T	NP_001269576.1:p.Ala161Ser
NM_001282648.1:c.409G>T	NP_001269577.1:p.Ala137Ser
NM_001282649.1:c.888G>T	NP_001269578.1:p.Gly296=
NM_001282650.1:c.1110G>T	NP_001269579.1:p.Gly370=
NM_001282651.1:c.1155G>T	NP_001269580.1:p.Gly385=
NM_005660.2:c.1071G>T	NP_005651.1:p.Gly357=
NM_005660.3:c.1071G>T MANE Select	NP_005651.1:p.Gly357=
NM_001032289.3:c.481G>T	NP_001027460.1:p.Ala161Ser
NM_001042498.3:c.1071G>T	NP_001035963.1:p.Gly357=
NM_001282647.2:c.481G>T	NP_001269576.1:p.Ala161Ser
NM_001282649.2:c.888G>T	NP_001269578.1:p.Gly296=
NM_001282650.2:c.1110G>T	NP_001269579.1:p.Gly370=
NM_001282651.2:c.1155G>T	NP_001269580.1:p.Gly385=
NM_001282648.2:c.409G>T	NP_001269577.1:p.Ala137Ser