Canonical Allele Identifier: CA360805260

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2088028
• ClinVar RCV Id: RCV003009861
• MyVariant Identifiers: chr5:g.131721182C>T (hg19) ; chr5:g.132385490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385490C>T , CM000667.2:g.132385490C>T	GRCh38
NC_000005.9:g.131721182C>T , CM000667.1:g.131721182C>T	GRCh37
NC_000005.8:g.131749081C>T	NCBI36
NG_008982.1:g.20782C>T
NG_008982.2:g.20787C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1176C>T	ENSP00000388838.2:n.665+1176C>T
ENST00000435065.7:c.887C>T	ENSP00000402760.2:p.Ala296Val
ENST00000448810.6:c.815C>T	ENSP00000401860.2:p.Ala272Val
ENST00000686757.1:c.834C>T	ENSP00000510721.1:p.Gly278=
ENST00000687740.1:n.1975C>T
ENST00000688151.1:n.2007C>T
ENST00000689271.1:c.671+1170C>T	ENSP00000510797.1:n.671+1170C>T
ENST00000690900.1:c.786C>T	ENSP00000510703.1:p.Gly262=
ENST00000692212.1:n.641C>T
ENST00000692355.1:c.204+1189C>T
ENST00000692413.1:c.834C>T	ENSP00000509374.1:p.Gly278=
ENST00000692825.1:c.883C>T	ENSP00000509447.1:n.883C>T
ENST00000693308.1:c.828C>T	ENSP00000509770.1:p.Gly276=
ENST00000693763.1:n.1975C>T
ENST00000245407.8:c.815C>T MANE Select	ENSP00000245407.3:p.Ala272Val
ENST00000245407.7:c.815C>T	ENSP00000245407.3:p.Ala272Val
ENST00000415928.5:c.584C>T	ENSP00000388838.1:p.Ala195Val
ENST00000435065.6:c.887C>T	ENSP00000402760.2:p.Ala296Val
ENST00000437841.6:c.*130C>T	ENSP00000400553.1:n.*130C>T
ENST00000448810.5:c.163C>T
ENST00000461013.5:n.8237C>T
NM_001308122.1:c.887C>T	NP_001295051.1:p.Ala296Val
NM_003060.3:c.815C>T	NP_003051.1:p.Ala272Val
XM_011543590.1:c.197C>T	XP_011541892.1:p.Ala66Val
XR_427718.1:n.1175C>T
XR_948290.1:n.1156C>T
XR_948291.1:n.1169C>T
XM_011543590.2:c.197C>T	XP_011541892.1:p.Ala66Val
XM_017009778.2:c.287C>T	XP_016865267.1:p.Ala96Val
XR_001742215.1:n.1156C>T
XR_001742216.1:n.1175C>T
XR_427718.2:n.1175C>T
XR_948290.2:n.1156C>T
XR_948291.2:n.1169C>T
NM_003060.4:c.815C>T MANE Select	NP_003051.1:p.Ala272Val
NM_001308122.2:c.887C>T	NP_001295051.1:p.Ala296Val