Canonical Allele Identifier: CA279213

Gene: SLC38A5

Linked Data

• ClinVar Variation Id: 208881
• ClinVar RCV Id: RCV000201351
• dbSNP Id: rs863223370
• MyVariant Identifiers: chrX:g.48320149A>G (hg19) ; chrX:g.48461763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48461763A>G , CM000685.2:g.48461763A>G	GRCh38
NC_000023.10:g.48320149A>G , CM000685.1:g.48320149A>G	GRCh37
NC_000023.9:g.48205093A>G	NCBI36
NG_021469.2:g.13494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620913.5:c.806T>C MANE Select	ENSP00000481291.1:p.Phe269Ser
ENST00000440085.5:c.806T>C	ENSP00000402988.1:p.Phe269Ser
ENST00000441948.5:c.806T>C	ENSP00000407258.1:p.Phe269Ser
ENST00000494034.5:c.389T>C
ENST00000497336.1:n.346-3071T>C
ENST00000595796.5:c.806T>C	ENSP00000471683.1:p.Phe269Ser
ENST00000619100.4:c.653T>C	ENSP00000478807.1:p.Phe218Ser
ENST00000620913.4:c.806T>C	ENSP00000481291.1:p.Phe269Ser
ENST00000622196.4:c.404T>C	ENSP00000484236.1:p.Phe135Ser
NM_033518.3:c.806T>C	NP_277053.2:p.Phe269Ser
XM_005272694.3:c.947T>C	XP_005272751.2:p.Phe316Ser
XM_005272695.3:c.806T>C	XP_005272752.2:p.Phe269Ser
XM_005272697.2:c.824T>C	XP_005272754.2:p.Phe275Ser
XM_005272698.3:c.806T>C	XP_005272755.2:p.Phe269Ser
XM_006724569.2:c.806T>C	XP_006724632.1:p.Phe269Ser
XM_005272695.4:c.947T>C	XP_005272752.3:p.Phe316Ser
XM_005272698.5:c.806T>C	XP_005272755.2:p.Phe269Ser
XM_006724569.3:c.806T>C	XP_006724632.1:p.Phe269Ser
XM_017029960.1:c.824T>C	XP_016885449.1:p.Phe275Ser
XM_017029961.2:c.806T>C	XP_016885450.1:p.Phe269Ser
NM_033518.4:c.806T>C MANE Select	NP_277053.2:p.Phe269Ser