Canonical Allele Identifier: CA360807773

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726549T>G (hg19) ; chr5:g.132390857T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390857T>G , CM000667.2:g.132390857T>G	GRCh38
NC_000005.9:g.131726549T>G , CM000667.1:g.131726549T>G	GRCh37
NC_000005.8:g.131754448T>G	NCBI36
NG_008982.1:g.26149T>G
NG_008982.2:g.26154T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1061T>G	ENSP00000388838.2:p.Leu354Arg
ENST00000435065.7:c.1292T>G	ENSP00000402760.2:p.Leu431Arg
ENST00000448810.6:c.*72T>G	ENSP00000401860.2:n.*72T>G
ENST00000685543.1:n.1361T>G
ENST00000686757.1:c.*384T>G	ENSP00000510721.1:n.*384T>G
ENST00000687740.1:n.3905T>G
ENST00000688151.1:n.2530T>G
ENST00000689271.1:c.1067T>G	ENSP00000510797.1:p.Leu356Arg
ENST00000690900.1:c.*384T>G	ENSP00000510703.1:n.*384T>G
ENST00000692212.1:n.2832T>G
ENST00000692355.1:c.473T>G
ENST00000692413.1:c.1202T>G	ENSP00000509374.1:p.Leu401Arg
ENST00000692825.1:c.1288T>G	ENSP00000509447.1:n.1288T>G
ENST00000693308.1:c.1268T>G	ENSP00000509770.1:p.Leu423Arg
ENST00000693763.1:n.2380T>G
ENST00000245407.8:c.1220T>G MANE Select	ENSP00000245407.3:p.Leu407Arg
ENST00000245407.7:c.1220T>G	ENSP00000245407.3:p.Leu407Arg
ENST00000435065.6:c.1292T>G	ENSP00000402760.2:p.Leu431Arg
ENST00000447841.5:c.112-1576T>G
ENST00000448810.5:c.482T>G
ENST00000461013.5:n.8642T>G
ENST00000475308.1:n.1898T>G
ENST00000479605.5:n.323T>G
NM_001308122.1:c.1292T>G	NP_001295051.1:p.Leu431Arg
NM_003060.3:c.1220T>G	NP_003051.1:p.Leu407Arg
XM_011543590.1:c.602T>G	XP_011541892.1:p.Leu201Arg
XR_427718.1:n.1580T>G
XR_948290.1:n.1394-1576T>G
XR_948291.1:n.1574T>G
XM_011543590.2:c.602T>G	XP_011541892.1:p.Leu201Arg
XM_017009778.2:c.692T>G	XP_016865267.1:p.Leu231Arg
XR_001742215.1:n.1475T>G
XR_001742216.1:n.1494T>G
XR_427718.2:n.1580T>G
XR_948290.2:n.1394-1576T>G
XR_948291.2:n.1574T>G
NM_003060.4:c.1220T>G MANE Select	NP_003051.1:p.Leu407Arg
NM_001308122.2:c.1292T>G	NP_001295051.1:p.Leu431Arg