Canonical Allele Identifier: CA360807497

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 972151
• ClinVar RCV Id: RCV001248116
• dbSNP Id: rs386134214
• MyVariant Identifiers: chr5:g.131726417T>A (hg19) ; chr5:g.132390725T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390725T>A , CM000667.2:g.132390725T>A	GRCh38
NC_000005.9:g.131726417T>A , CM000667.1:g.131726417T>A	GRCh37
NC_000005.8:g.131754316T>A	NCBI36
NG_008982.1:g.26017T>A
NG_008982.2:g.26022T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.929T>A	ENSP00000388838.2:p.Leu310His
ENST00000435065.7:c.1160T>A	ENSP00000402760.2:p.Leu387His
ENST00000448810.6:c.1053-51T>A	ENSP00000401860.2:n.1053-51T>A
ENST00000685543.1:n.1229T>A
ENST00000686757.1:c.*252T>A	ENSP00000510721.1:n.*252T>A
ENST00000687740.1:n.3773T>A
ENST00000688151.1:n.2398T>A
ENST00000689271.1:c.935T>A	ENSP00000510797.1:p.Leu312His
ENST00000690900.1:c.*252T>A	ENSP00000510703.1:n.*252T>A
ENST00000692212.1:n.2700T>A
ENST00000692355.1:c.341T>A
ENST00000692413.1:c.1070T>A	ENSP00000509374.1:p.Leu357His
ENST00000692825.1:c.1156T>A	ENSP00000509447.1:n.1156T>A
ENST00000693308.1:c.1136T>A	ENSP00000509770.1:p.Leu379His
ENST00000693763.1:n.2248T>A
ENST00000245407.8:c.1088T>A MANE Select	ENSP00000245407.3:p.Leu363His
ENST00000245407.7:c.1088T>A	ENSP00000245407.3:p.Leu363His
ENST00000435065.6:c.1160T>A	ENSP00000402760.2:p.Leu387His
ENST00000447841.5:c.111+1704T>A
ENST00000448810.5:c.401-51T>A
ENST00000461013.5:n.8510T>A
ENST00000475308.1:n.1766T>A
ENST00000479605.5:n.191T>A
NM_001308122.1:c.1160T>A	NP_001295051.1:p.Leu387His
NM_003060.3:c.1088T>A	NP_003051.1:p.Leu363His
XM_011543590.1:c.470T>A	XP_011541892.1:p.Leu157His
XR_427718.1:n.1448T>A
XR_948290.1:n.1393+1704T>A
XR_948291.1:n.1442T>A
XM_011543590.2:c.470T>A	XP_011541892.1:p.Leu157His
XM_017009778.2:c.560T>A	XP_016865267.1:p.Leu187His
XR_001742215.1:n.1394-51T>A
XR_001742216.1:n.1413-51T>A
XR_427718.2:n.1448T>A
XR_948290.2:n.1393+1704T>A
XR_948291.2:n.1442T>A
NM_003060.4:c.1088T>A MANE Select	NP_003051.1:p.Leu363His
NM_001308122.2:c.1160T>A	NP_001295051.1:p.Leu387His