Canonical Allele Identifier: CA360807795

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1707681
• ClinVar RCV Id: RCV002286660
• MyVariant Identifiers: chr5:g.131726561G>T (hg19) ; chr5:g.132390869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390869G>T , CM000667.2:g.132390869G>T	GRCh38
NC_000005.9:g.131726561G>T , CM000667.1:g.131726561G>T	GRCh37
NC_000005.8:g.131754460G>T	NCBI36
NG_008982.1:g.26161G>T
NG_008982.2:g.26166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1073G>T	ENSP00000388838.2:p.Gly358Val
ENST00000435065.7:c.1304G>T	ENSP00000402760.2:p.Gly435Val
ENST00000448810.6:c.*84G>T	ENSP00000401860.2:n.*84G>T
ENST00000685543.1:n.1373G>T
ENST00000686757.1:c.*396G>T	ENSP00000510721.1:n.*396G>T
ENST00000687740.1:n.3917G>T
ENST00000688151.1:n.2542G>T
ENST00000689271.1:c.1079G>T	ENSP00000510797.1:p.Gly360Val
ENST00000690900.1:c.*396G>T	ENSP00000510703.1:n.*396G>T
ENST00000692212.1:n.2844G>T
ENST00000692355.1:c.485G>T
ENST00000692413.1:c.1214G>T	ENSP00000509374.1:p.Gly405Val
ENST00000692825.1:c.1300G>T	ENSP00000509447.1:n.1300G>T
ENST00000693308.1:c.1280G>T	ENSP00000509770.1:p.Gly427Val
ENST00000693763.1:n.2392G>T
ENST00000245407.8:c.1232G>T MANE Select	ENSP00000245407.3:p.Gly411Val
ENST00000245407.7:c.1232G>T	ENSP00000245407.3:p.Gly411Val
ENST00000435065.6:c.1304G>T	ENSP00000402760.2:p.Gly435Val
ENST00000447841.5:c.112-1564G>T
ENST00000448810.5:c.494G>T
ENST00000461013.5:n.8654G>T
ENST00000475308.1:n.1910G>T
ENST00000479605.5:n.335G>T
NM_001308122.1:c.1304G>T	NP_001295051.1:p.Gly435Val
NM_003060.3:c.1232G>T	NP_003051.1:p.Gly411Val
XM_011543590.1:c.614G>T	XP_011541892.1:p.Gly205Val
XR_427718.1:n.1592G>T
XR_948290.1:n.1394-1564G>T
XR_948291.1:n.1586G>T
XM_011543590.2:c.614G>T	XP_011541892.1:p.Gly205Val
XM_017009778.2:c.704G>T	XP_016865267.1:p.Gly235Val
XR_001742215.1:n.1487G>T
XR_001742216.1:n.1506G>T
XR_427718.2:n.1592G>T
XR_948290.2:n.1394-1564G>T
XR_948291.2:n.1586G>T
NM_003060.4:c.1232G>T MANE Select	NP_003051.1:p.Gly411Val
NM_001308122.2:c.1304G>T	NP_001295051.1:p.Gly435Val