Canonical Allele Identifier: CA446347799

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1161591
• ClinVar RCV Id: RCV001506145
• dbSNP Id: rs2126793211
• MyVariant Identifiers: chr5:g.131729895T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394203T>G , CM000667.2:g.132394203T>G	GRCh38
NC_000005.9:g.131729895T>G , CM000667.1:g.131729895T>G	GRCh37
NC_000005.8:g.131757794T>G	NCBI36
NG_008982.1:g.29495T>G
NG_008982.2:g.29500T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*14T>G	ENSP00000388838.2:n.*14T>G
ENST00000435065.7:c.1677T>G	ENSP00000402760.2:p.Thr559=
ENST00000448810.6:c.*457T>G	ENSP00000401860.2:n.*457T>G
ENST00000685543.1:n.1746T>G
ENST00000686757.1:c.*769T>G	ENSP00000510721.1:n.*769T>G
ENST00000686868.1:n.597T>G
ENST00000687740.1:n.4290T>G
ENST00000688151.1:n.2915T>G
ENST00000689271.1:c.1452T>G	ENSP00000510797.1:p.Thr484=
ENST00000690900.1:c.*769T>G	ENSP00000510703.1:n.*769T>G
ENST00000692212.1:n.4745T>G
ENST00000692355.1:c.858T>G
ENST00000692413.1:c.1587T>G	ENSP00000509374.1:p.Thr529=
ENST00000692825.1:c.1673T>G	ENSP00000509447.1:n.1673T>G
ENST00000693308.1:c.1653T>G	ENSP00000509770.1:p.Thr551=
ENST00000693763.1:n.2765T>G
ENST00000245407.8:c.1605T>G MANE Select	ENSP00000245407.3:p.Thr535=
ENST00000245407.7:c.1605T>G	ENSP00000245407.3:p.Thr535=
ENST00000435065.6:c.1677T>G	ENSP00000402760.2:p.Thr559=
ENST00000447841.5:c.449T>G
ENST00000461013.5:n.9027T>G
ENST00000475308.1:n.2283T>G
NM_001308122.1:c.1677T>G	NP_001295051.1:p.Thr559=
NM_003060.3:c.1605T>G	NP_003051.1:p.Thr535=
XM_011543590.1:c.987T>G	XP_011541892.1:p.Thr329=
XR_948290.1:n.1731T>G
XM_011543590.2:c.987T>G	XP_011541892.1:p.Thr329=
XM_017009778.2:c.1077T>G	XP_016865267.1:p.Thr359=
XR_001742215.1:n.1860T>G
XR_001742216.1:n.1879T>G
XR_427718.2:n.1965T>G
XR_948290.2:n.1731T>G
XR_948291.2:n.1959T>G
NM_003060.4:c.1605T>G MANE Select	NP_003051.1:p.Thr535=
NM_001308122.2:c.1677T>G	NP_001295051.1:p.Thr559=