Canonical Allele Identifier: CA3404038

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132388975C>T , CM000667.2:g.132388975C>T	GRCh38
NC_000005.9:g.131724667C>T , CM000667.1:g.131724667C>T	GRCh37
NC_000005.8:g.131752566C>T	NCBI36
NG_008982.1:g.24267C>T
NG_008982.2:g.24272C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1006C>T MANE Select	NP_003051.1:p.Arg336Ter
ENST00000245407.8:c.1006C>T MANE Select	ENSP00000245407.3:p.Arg336Ter
NM_001308122.1:c.1078C>T	NP_001295051.1:p.Arg360Ter
NM_001308122.2:c.1078C>T	NP_001295051.1:p.Arg360Ter
NM_003060.3:c.1006C>T	NP_003051.1:p.Arg336Ter
ENST00000245407.7:c.1006C>T	ENSP00000245407.3:p.Arg336Ter
ENST00000415928.6:c.847C>T	ENSP00000388838.2:p.Arg283Ter
ENST00000435065.6:c.1078C>T	ENSP00000402760.2:p.Arg360Ter
ENST00000435065.7:c.1078C>T	ENSP00000402760.2:p.Arg360Ter
ENST00000437841.6:c.*321C>T	ENSP00000400553.1:n.*321C>T
ENST00000447841.5:c.65C>T
ENST00000448810.5:c.354C>T
ENST00000448810.6:c.1006C>T	ENSP00000401860.2:p.Arg336Ter
ENST00000461013.5:n.8428C>T
ENST00000475308.1:n.16C>T
ENST00000479605.5:n.109C>T
ENST00000685543.1:n.1147C>T
ENST00000686757.1:c.*170C>T	ENSP00000510721.1:n.*170C>T
ENST00000687740.1:n.3691C>T
ENST00000688151.1:n.2316C>T
ENST00000689271.1:c.853C>T	ENSP00000510797.1:p.Arg285Ter
ENST00000690900.1:c.*170C>T	ENSP00000510703.1:n.*170C>T
ENST00000692212.1:n.950C>T
ENST00000692355.1:c.259C>T
ENST00000692413.1:c.988C>T	ENSP00000509374.1:p.Arg330Ter
ENST00000692825.1:c.1074C>T	ENSP00000509447.1:n.1074C>T
ENST00000693308.1:c.1054C>T	ENSP00000509770.1:p.Arg352Ter
ENST00000693763.1:n.2166C>T
XM_011543590.1:c.388C>T	XP_011541892.1:p.Arg130Ter
XM_011543590.2:c.388C>T	XP_011541892.1:p.Arg130Ter
XM_017009778.2:c.478C>T	XP_016865267.1:p.Arg160Ter
XR_001742215.1:n.1347C>T
XR_001742216.1:n.1366C>T
XR_427718.1:n.1366C>T
XR_427718.2:n.1366C>T
XR_948290.1:n.1347C>T
XR_948290.2:n.1347C>T
XR_948291.1:n.1360C>T
XR_948291.2:n.1360C>T