Canonical Allele Identifier: CA360807721

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726522C>G (hg19) ; chr5:g.132390830C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390830C>G , CM000667.2:g.132390830C>G	GRCh38
NC_000005.9:g.131726522C>G , CM000667.1:g.131726522C>G	GRCh37
NC_000005.8:g.131754421C>G	NCBI36
NG_008982.1:g.26122C>G
NG_008982.2:g.26127C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1034C>G	ENSP00000388838.2:p.Pro345Arg
ENST00000435065.7:c.1265C>G	ENSP00000402760.2:p.Pro422Arg
ENST00000448810.6:c.*45C>G	ENSP00000401860.2:n.*45C>G
ENST00000685543.1:n.1334C>G
ENST00000686757.1:c.*357C>G	ENSP00000510721.1:n.*357C>G
ENST00000687740.1:n.3878C>G
ENST00000688151.1:n.2503C>G
ENST00000689271.1:c.1040C>G	ENSP00000510797.1:p.Pro347Arg
ENST00000690900.1:c.*357C>G	ENSP00000510703.1:n.*357C>G
ENST00000692212.1:n.2805C>G
ENST00000692355.1:c.446C>G
ENST00000692413.1:c.1175C>G	ENSP00000509374.1:p.Pro392Arg
ENST00000692825.1:c.1261C>G	ENSP00000509447.1:n.1261C>G
ENST00000693308.1:c.1241C>G	ENSP00000509770.1:p.Pro414Arg
ENST00000693763.1:n.2353C>G
ENST00000245407.8:c.1193C>G MANE Select	ENSP00000245407.3:p.Pro398Arg
ENST00000245407.7:c.1193C>G	ENSP00000245407.3:p.Pro398Arg
ENST00000435065.6:c.1265C>G	ENSP00000402760.2:p.Pro422Arg
ENST00000447841.5:c.112-1603C>G
ENST00000448810.5:c.455C>G
ENST00000461013.5:n.8615C>G
ENST00000475308.1:n.1871C>G
ENST00000479605.5:n.296C>G
NM_001308122.1:c.1265C>G	NP_001295051.1:p.Pro422Arg
NM_003060.3:c.1193C>G	NP_003051.1:p.Pro398Arg
XM_011543590.1:c.575C>G	XP_011541892.1:p.Pro192Arg
XR_427718.1:n.1553C>G
XR_948290.1:n.1394-1603C>G
XR_948291.1:n.1547C>G
XM_011543590.2:c.575C>G	XP_011541892.1:p.Pro192Arg
XM_017009778.2:c.665C>G	XP_016865267.1:p.Pro222Arg
XR_001742215.1:n.1448C>G
XR_001742216.1:n.1467C>G
XR_427718.2:n.1553C>G
XR_948290.2:n.1394-1603C>G
XR_948291.2:n.1547C>G
NM_003060.4:c.1193C>G MANE Select	NP_003051.1:p.Pro398Arg
NM_001308122.2:c.1265C>G	NP_001295051.1:p.Pro422Arg