Canonical Allele Identifier: CA342661

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 25401
• ClinVar RCV Id: RCV000022354 ; RCV000413524 ; RCV003258656
• dbSNP Id: rs386134210
• gnomAD v3: 5-132387045-G-A
• gnomAD v4: 5-132387045-G-A
• MyVariant Identifiers: chr5:g.131722737G>A (hg19) ; chr5:g.132387045G>A (hg38)
• PubMed: PMID:16652335 ; PMID:23757202

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387045G>A , CM000667.2:g.132387045G>A	GRCh38
NC_000005.9:g.131722737G>A , CM000667.1:g.131722737G>A	GRCh37
NC_000005.8:g.131750636G>A	NCBI36
NG_008982.1:g.22337G>A
NG_008982.2:g.22342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.686G>A	ENSP00000388838.2:p.Arg229Gln
ENST00000435065.7:c.917G>A	ENSP00000402760.2:p.Arg306Gln
ENST00000448810.6:c.845G>A	ENSP00000401860.2:p.Arg282Gln
ENST00000686757.1:c.*9G>A	ENSP00000510721.1:n.*9G>A
ENST00000687740.1:n.3530G>A
ENST00000688151.1:n.2155G>A
ENST00000689271.1:c.692G>A	ENSP00000510797.1:p.Arg231Gln
ENST00000690900.1:c.*9G>A	ENSP00000510703.1:n.*9G>A
ENST00000692212.1:n.789G>A
ENST00000692355.1:c.205-1876G>A
ENST00000692413.1:c.844-17G>A	ENSP00000509374.1:n.844-17G>A
ENST00000692825.1:c.913G>A	ENSP00000509447.1:n.913G>A
ENST00000693308.1:c.893G>A	ENSP00000509770.1:p.Arg298Gln
ENST00000693763.1:n.2005G>A
ENST00000245407.8:c.845G>A MANE Select	ENSP00000245407.3:p.Arg282Gln
ENST00000245407.7:c.845G>A	ENSP00000245407.3:p.Arg282Gln
ENST00000415928.5:c.614G>A	ENSP00000388838.1:p.Arg205Gln
ENST00000435065.6:c.917G>A	ENSP00000402760.2:p.Arg306Gln
ENST00000437841.6:c.*160G>A	ENSP00000400553.1:n.*160G>A
ENST00000448810.5:c.193G>A
ENST00000461013.5:n.8267G>A
NM_001308122.1:c.917G>A	NP_001295051.1:p.Arg306Gln
NM_003060.3:c.845G>A	NP_003051.1:p.Arg282Gln
XM_011543590.1:c.227G>A	XP_011541892.1:p.Arg76Gln
XR_427718.1:n.1205G>A
XR_948290.1:n.1186G>A
XR_948291.1:n.1199G>A
XM_011543590.2:c.227G>A	XP_011541892.1:p.Arg76Gln
XM_017009778.2:c.317G>A	XP_016865267.1:p.Arg106Gln
XR_001742215.1:n.1186G>A
XR_001742216.1:n.1205G>A
XR_427718.2:n.1205G>A
XR_948290.2:n.1186G>A
XR_948291.2:n.1199G>A
NM_003060.4:c.845G>A MANE Select	NP_003051.1:p.Arg282Gln
NM_001308122.2:c.917G>A	NP_001295051.1:p.Arg306Gln