Canonical Allele Identifier: CA360807761

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726543C>A (hg19) ; chr5:g.132390851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390851C>A , CM000667.2:g.132390851C>A	GRCh38
NC_000005.9:g.131726543C>A , CM000667.1:g.131726543C>A	GRCh37
NC_000005.8:g.131754442C>A	NCBI36
NG_008982.1:g.26143C>A
NG_008982.2:g.26148C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1055C>A	ENSP00000388838.2:p.Thr352Asn
ENST00000435065.7:c.1286C>A	ENSP00000402760.2:p.Thr429Asn
ENST00000448810.6:c.*66C>A	ENSP00000401860.2:n.*66C>A
ENST00000685543.1:n.1355C>A
ENST00000686757.1:c.*378C>A	ENSP00000510721.1:n.*378C>A
ENST00000687740.1:n.3899C>A
ENST00000688151.1:n.2524C>A
ENST00000689271.1:c.1061C>A	ENSP00000510797.1:p.Thr354Asn
ENST00000690900.1:c.*378C>A	ENSP00000510703.1:n.*378C>A
ENST00000692212.1:n.2826C>A
ENST00000692355.1:c.467C>A
ENST00000692413.1:c.1196C>A	ENSP00000509374.1:p.Thr399Asn
ENST00000692825.1:c.1282C>A	ENSP00000509447.1:n.1282C>A
ENST00000693308.1:c.1262C>A	ENSP00000509770.1:p.Thr421Asn
ENST00000693763.1:n.2374C>A
ENST00000245407.8:c.1214C>A MANE Select	ENSP00000245407.3:p.Thr405Asn
ENST00000245407.7:c.1214C>A	ENSP00000245407.3:p.Thr405Asn
ENST00000435065.6:c.1286C>A	ENSP00000402760.2:p.Thr429Asn
ENST00000447841.5:c.112-1582C>A
ENST00000448810.5:c.476C>A
ENST00000461013.5:n.8636C>A
ENST00000475308.1:n.1892C>A
ENST00000479605.5:n.317C>A
NM_001308122.1:c.1286C>A	NP_001295051.1:p.Thr429Asn
NM_003060.3:c.1214C>A	NP_003051.1:p.Thr405Asn
XM_011543590.1:c.596C>A	XP_011541892.1:p.Thr199Asn
XR_427718.1:n.1574C>A
XR_948290.1:n.1394-1582C>A
XR_948291.1:n.1568C>A
XM_011543590.2:c.596C>A	XP_011541892.1:p.Thr199Asn
XM_017009778.2:c.686C>A	XP_016865267.1:p.Thr229Asn
XR_001742215.1:n.1469C>A
XR_001742216.1:n.1488C>A
XR_427718.2:n.1574C>A
XR_948290.2:n.1394-1582C>A
XR_948291.2:n.1568C>A
NM_003060.4:c.1214C>A MANE Select	NP_003051.1:p.Thr405Asn
NM_001308122.2:c.1286C>A	NP_001295051.1:p.Thr429Asn