Canonical Allele Identifier: CA342644

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385370C>T , CM000667.2:g.132385370C>T	GRCh38
NC_000005.9:g.131721062C>T , CM000667.1:g.131721062C>T	GRCh37
NC_000005.8:g.131748961C>T	NCBI36
NG_008982.1:g.20662C>T
NG_008982.2:g.20667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1056C>T	ENSP00000388838.2:n.665+1056C>T
ENST00000435065.7:c.767C>T	ENSP00000402760.2:p.Thr256Met
ENST00000448810.6:c.695C>T	ENSP00000401860.2:p.Thr232Met
ENST00000686757.1:c.714C>T	ENSP00000510721.1:p.Tyr238=
ENST00000687740.1:n.1855C>T
ENST00000688151.1:n.1887C>T
ENST00000689271.1:c.671+1050C>T	ENSP00000510797.1:n.671+1050C>T
ENST00000690900.1:c.672-6C>T	ENSP00000510703.1:n.672-6C>T
ENST00000692212.1:n.521C>T
ENST00000692355.1:c.204+1069C>T
ENST00000692413.1:c.714C>T	ENSP00000509374.1:p.Tyr238=
ENST00000692825.1:c.763C>T	ENSP00000509447.1:n.763C>T
ENST00000693308.1:c.708C>T	ENSP00000509770.1:p.Tyr236=
ENST00000693763.1:n.1855C>T
ENST00000245407.8:c.695C>T MANE Select	ENSP00000245407.3:p.Thr232Met
ENST00000245407.7:c.695C>T	ENSP00000245407.3:p.Thr232Met
ENST00000415928.5:c.464C>T	ENSP00000388838.1:p.Thr155Met
ENST00000435065.6:c.767C>T	ENSP00000402760.2:p.Thr256Met
ENST00000437841.6:c.*10C>T	ENSP00000400553.1:n.*10C>T
ENST00000448810.5:c.43C>T
ENST00000461013.5:n.8117C>T
NM_001308122.1:c.767C>T	NP_001295051.1:p.Thr256Met
NM_003060.3:c.695C>T	NP_003051.1:p.Thr232Met
XM_011543590.1:c.77C>T	XP_011541892.1:p.Thr26Met
XR_427718.1:n.1055C>T
XR_948290.1:n.1036C>T
XR_948291.1:n.1049C>T
XM_011543590.2:c.77C>T	XP_011541892.1:p.Thr26Met
XM_017009778.2:c.167C>T	XP_016865267.1:p.Thr56Met
XR_001742215.1:n.1036C>T
XR_001742216.1:n.1055C>T
XR_427718.2:n.1055C>T
XR_948290.2:n.1036C>T
XR_948291.2:n.1049C>T
NM_003060.4:c.695C>T MANE Select	NP_003051.1:p.Thr232Met
NM_001308122.2:c.767C>T	NP_001295051.1:p.Thr256Met