Canonical Allele Identifier: CA360805018

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721062C>G (hg19) ; chr5:g.132385370C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1056C>G	ENSP00000388838.2:n.665+1056C>G
ENST00000435065.7:c.767C>G	ENSP00000402760.2:p.Thr256Arg
ENST00000448810.6:c.695C>G	ENSP00000401860.2:p.Thr232Arg
ENST00000686757.1:c.714C>G	ENSP00000510721.1:p.Tyr238Ter
ENST00000687740.1:n.1855C>G
ENST00000688151.1:n.1887C>G
ENST00000689271.1:c.671+1050C>G	ENSP00000510797.1:n.671+1050C>G
ENST00000690900.1:c.672-6C>G	ENSP00000510703.1:n.672-6C>G
ENST00000692212.1:n.521C>G
ENST00000692355.1:c.204+1069C>G
ENST00000692413.1:c.714C>G	ENSP00000509374.1:p.Tyr238Ter
ENST00000692825.1:c.763C>G	ENSP00000509447.1:n.763C>G
ENST00000693308.1:c.708C>G	ENSP00000509770.1:p.Tyr236Ter
ENST00000693763.1:n.1855C>G
ENST00000245407.8:c.695C>G MANE Select	ENSP00000245407.3:p.Thr232Arg
ENST00000245407.7:c.695C>G	ENSP00000245407.3:p.Thr232Arg
ENST00000415928.5:c.464C>G	ENSP00000388838.1:p.Thr155Arg
ENST00000435065.6:c.767C>G	ENSP00000402760.2:p.Thr256Arg
ENST00000437841.6:c.*10C>G	ENSP00000400553.1:n.*10C>G
ENST00000448810.5:c.43C>G
ENST00000461013.5:n.8117C>G
NM_001308122.1:c.767C>G	NP_001295051.1:p.Thr256Arg
NM_003060.3:c.695C>G	NP_003051.1:p.Thr232Arg
XM_011543590.1:c.77C>G	XP_011541892.1:p.Thr26Arg
XR_427718.1:n.1055C>G
XR_948290.1:n.1036C>G
XR_948291.1:n.1049C>G
XM_011543590.2:c.77C>G	XP_011541892.1:p.Thr26Arg
XM_017009778.2:c.167C>G	XP_016865267.1:p.Thr56Arg
XR_001742215.1:n.1036C>G
XR_001742216.1:n.1055C>G
XR_427718.2:n.1055C>G
XR_948290.2:n.1036C>G
XR_948291.2:n.1049C>G
NM_003060.4:c.695C>G MANE Select	NP_003051.1:p.Thr232Arg
NM_001308122.2:c.767C>G	NP_001295051.1:p.Thr256Arg