Canonical Allele Identifier: CA312948

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387065C>T , CM000667.2:g.132387065C>T	GRCh38
NC_000005.9:g.131722757C>T , CM000667.1:g.131722757C>T	GRCh37
NC_000005.8:g.131750656C>T	NCBI36
NG_008982.1:g.22357C>T
NG_008982.2:g.22362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.706C>T	ENSP00000388838.2:p.Arg236Ter
ENST00000435065.7:c.937C>T	ENSP00000402760.2:p.Arg313Ter
ENST00000448810.6:c.865C>T	ENSP00000401860.2:p.Arg289Ter
ENST00000686757.1:c.*29C>T	ENSP00000510721.1:n.*29C>T
ENST00000687740.1:n.3550C>T
ENST00000688151.1:n.2175C>T
ENST00000689271.1:c.712C>T	ENSP00000510797.1:p.Arg238Ter
ENST00000690900.1:c.*29C>T	ENSP00000510703.1:n.*29C>T
ENST00000692212.1:n.809C>T
ENST00000692355.1:c.205-1856C>T
ENST00000692413.1:c.847C>T	ENSP00000509374.1:p.Arg283Ter
ENST00000692825.1:c.933C>T	ENSP00000509447.1:n.933C>T
ENST00000693308.1:c.913C>T	ENSP00000509770.1:p.Arg305Ter
ENST00000693763.1:n.2025C>T
ENST00000245407.8:c.865C>T MANE Select	ENSP00000245407.3:p.Arg289Ter
ENST00000245407.7:c.865C>T	ENSP00000245407.3:p.Arg289Ter
ENST00000415928.5:c.634C>T	ENSP00000388838.1:p.Arg212Ter
ENST00000435065.6:c.937C>T	ENSP00000402760.2:p.Arg313Ter
ENST00000437841.6:c.*180C>T	ENSP00000400553.1:n.*180C>T
ENST00000448810.5:c.213C>T
ENST00000461013.5:n.8287C>T
NM_001308122.1:c.937C>T	NP_001295051.1:p.Arg313Ter
NM_003060.3:c.865C>T	NP_003051.1:p.Arg289Ter
XM_011543590.1:c.247C>T	XP_011541892.1:p.Arg83Ter
XR_427718.1:n.1225C>T
XR_948290.1:n.1206C>T
XR_948291.1:n.1219C>T
XM_011543590.2:c.247C>T	XP_011541892.1:p.Arg83Ter
XM_017009778.2:c.337C>T	XP_016865267.1:p.Arg113Ter
XR_001742215.1:n.1206C>T
XR_001742216.1:n.1225C>T
XR_427718.2:n.1225C>T
XR_948290.2:n.1206C>T
XR_948291.2:n.1219C>T
NM_003060.4:c.865C>T MANE Select	NP_003051.1:p.Arg289Ter
NM_001308122.2:c.937C>T	NP_001295051.1:p.Arg313Ter