Canonical Allele Identifier: CA342685

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392577G>A , CM000667.2:g.132392577G>A	GRCh38
NC_000005.9:g.131728269G>A , CM000667.1:g.131728269G>A	GRCh37
NC_000005.8:g.131756168G>A	NCBI36
NG_008982.1:g.27869G>A
NG_008982.2:g.27874G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1253G>A	ENSP00000388838.2:p.Arg418His
ENST00000435065.7:c.1484G>A	ENSP00000402760.2:p.Arg495His
ENST00000448810.6:c.*264G>A	ENSP00000401860.2:n.*264G>A
ENST00000685543.1:n.1553G>A
ENST00000686757.1:c.*576G>A	ENSP00000510721.1:n.*576G>A
ENST00000687740.1:n.4097G>A
ENST00000688151.1:n.2722G>A
ENST00000689271.1:c.1259G>A	ENSP00000510797.1:p.Arg420His
ENST00000690900.1:c.*576G>A	ENSP00000510703.1:n.*576G>A
ENST00000692212.1:n.4552G>A
ENST00000692355.1:c.665G>A
ENST00000692413.1:c.1394G>A	ENSP00000509374.1:p.Arg465His
ENST00000692825.1:c.1480G>A	ENSP00000509447.1:n.1480G>A
ENST00000693308.1:c.1460G>A	ENSP00000509770.1:p.Arg487His
ENST00000693763.1:n.2572G>A
ENST00000245407.8:c.1412G>A MANE Select	ENSP00000245407.3:p.Arg471His
ENST00000245407.7:c.1412G>A	ENSP00000245407.3:p.Arg471His
ENST00000435065.6:c.1484G>A	ENSP00000402760.2:p.Arg495His
ENST00000447841.5:c.256G>A
ENST00000448810.5:c.674G>A
ENST00000461013.5:n.8834G>A
ENST00000475308.1:n.2090G>A
ENST00000479605.5:n.515G>A
NM_001308122.1:c.1484G>A	NP_001295051.1:p.Arg495His
NM_003060.3:c.1412G>A	NP_003051.1:p.Arg471His
XM_011543590.1:c.794G>A	XP_011541892.1:p.Arg265His
XR_948290.1:n.1538G>A
XM_011543590.2:c.794G>A	XP_011541892.1:p.Arg265His
XM_017009778.2:c.884G>A	XP_016865267.1:p.Arg295His
XR_001742215.1:n.1667G>A
XR_001742216.1:n.1686G>A
XR_427718.2:n.1772G>A
XR_948290.2:n.1538G>A
XR_948291.2:n.1766G>A
NM_003060.4:c.1412G>A MANE Select	NP_003051.1:p.Arg471His
NM_001308122.2:c.1484G>A	NP_001295051.1:p.Arg495His