Canonical Allele Identifier: CA342675

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392484C>T , CM000667.2:g.132392484C>T	GRCh38
NC_000005.9:g.131728176C>T , CM000667.1:g.131728176C>T	GRCh37
NC_000005.8:g.131756075C>T	NCBI36
NG_008982.1:g.27776C>T
NG_008982.2:g.27781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1160C>T	ENSP00000388838.2:p.Thr387Met
ENST00000435065.7:c.1391C>T	ENSP00000402760.2:p.Thr464Met
ENST00000448810.6:c.*171C>T	ENSP00000401860.2:n.*171C>T
ENST00000685543.1:n.1460C>T
ENST00000686757.1:c.*483C>T	ENSP00000510721.1:n.*483C>T
ENST00000687740.1:n.4004C>T
ENST00000688151.1:n.2629C>T
ENST00000689271.1:c.1166C>T	ENSP00000510797.1:p.Thr389Met
ENST00000690900.1:c.*483C>T	ENSP00000510703.1:n.*483C>T
ENST00000692212.1:n.4459C>T
ENST00000692355.1:c.572C>T
ENST00000692413.1:c.1301C>T	ENSP00000509374.1:p.Thr434Met
ENST00000692825.1:c.1387C>T	ENSP00000509447.1:n.1387C>T
ENST00000693308.1:c.1367C>T	ENSP00000509770.1:p.Thr456Met
ENST00000693763.1:n.2479C>T
ENST00000245407.8:c.1319C>T MANE Select	ENSP00000245407.3:p.Thr440Met
ENST00000245407.7:c.1319C>T	ENSP00000245407.3:p.Thr440Met
ENST00000435065.6:c.1391C>T	ENSP00000402760.2:p.Thr464Met
ENST00000447841.5:c.163C>T
ENST00000448810.5:c.581C>T
ENST00000461013.5:n.8741C>T
ENST00000475308.1:n.1997C>T
ENST00000479605.5:n.422C>T
NM_001308122.1:c.1391C>T	NP_001295051.1:p.Thr464Met
NM_003060.3:c.1319C>T	NP_003051.1:p.Thr440Met
XM_011543590.1:c.701C>T	XP_011541892.1:p.Thr234Met
XR_948290.1:n.1445C>T
XM_011543590.2:c.701C>T	XP_011541892.1:p.Thr234Met
XM_017009778.2:c.791C>T	XP_016865267.1:p.Thr264Met
XR_001742215.1:n.1574C>T
XR_001742216.1:n.1593C>T
XR_427718.2:n.1679C>T
XR_948290.2:n.1445C>T
XR_948291.2:n.1673C>T
NM_003060.4:c.1319C>T MANE Select	NP_003051.1:p.Thr440Met
NM_001308122.2:c.1391C>T	NP_001295051.1:p.Thr464Met