Canonical Allele Identifier: CA360805525

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1451033
• ClinVar RCV Id: RCV001993065
• dbSNP Id: rs2126785898
• gnomAD v4: 5-132387036-A-T
• MyVariant Identifiers: chr5:g.131722728A>T (hg19) ; chr5:g.132387036A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387036A>T , CM000667.2:g.132387036A>T	GRCh38
NC_000005.9:g.131722728A>T , CM000667.1:g.131722728A>T	GRCh37
NC_000005.8:g.131750627A>T	NCBI36
NG_008982.1:g.22328A>T
NG_008982.2:g.22333A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.677A>T	ENSP00000388838.2:p.Glu226Val
ENST00000435065.7:c.908A>T	ENSP00000402760.2:p.Glu303Val
ENST00000448810.6:c.836A>T	ENSP00000401860.2:p.Glu279Val
ENST00000686757.1:c.855A>T	ENSP00000510721.1:p.Ter285Cys
ENST00000687740.1:n.3521A>T
ENST00000688151.1:n.2146A>T
ENST00000689271.1:c.683A>T	ENSP00000510797.1:p.Glu228Val
ENST00000690900.1:c.807A>T	ENSP00000510703.1:p.Ter269Cys
ENST00000692212.1:n.780A>T
ENST00000692355.1:c.205-1885A>T
ENST00000692413.1:c.844-26A>T	ENSP00000509374.1:n.844-26A>T
ENST00000692825.1:c.904A>T	ENSP00000509447.1:n.904A>T
ENST00000693308.1:c.884A>T	ENSP00000509770.1:p.Glu295Val
ENST00000693763.1:n.1996A>T
ENST00000245407.8:c.836A>T MANE Select	ENSP00000245407.3:p.Glu279Val
ENST00000245407.7:c.836A>T	ENSP00000245407.3:p.Glu279Val
ENST00000415928.5:c.605A>T	ENSP00000388838.1:p.Glu202Val
ENST00000435065.6:c.908A>T	ENSP00000402760.2:p.Glu303Val
ENST00000437841.6:c.*151A>T	ENSP00000400553.1:n.*151A>T
ENST00000448810.5:c.184A>T
ENST00000461013.5:n.8258A>T
NM_001308122.1:c.908A>T	NP_001295051.1:p.Glu303Val
NM_003060.3:c.836A>T	NP_003051.1:p.Glu279Val
XM_011543590.1:c.218A>T	XP_011541892.1:p.Glu73Val
XR_427718.1:n.1196A>T
XR_948290.1:n.1177A>T
XR_948291.1:n.1190A>T
XM_011543590.2:c.218A>T	XP_011541892.1:p.Glu73Val
XM_017009778.2:c.308A>T	XP_016865267.1:p.Glu103Val
XR_001742215.1:n.1177A>T
XR_001742216.1:n.1196A>T
XR_427718.2:n.1196A>T
XR_948290.2:n.1177A>T
XR_948291.2:n.1190A>T
NM_003060.4:c.836A>T MANE Select	NP_003051.1:p.Glu279Val
NM_001308122.2:c.908A>T	NP_001295051.1:p.Glu303Val