Canonical Allele Identifier: CA360805538

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387044C>G , CM000667.2:g.132387044C>G	GRCh38
NC_000005.9:g.131722736C>G , CM000667.1:g.131722736C>G	GRCh37
NC_000005.8:g.131750635C>G	NCBI36
NG_008982.1:g.22336C>G
NG_008982.2:g.22341C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.685C>G	ENSP00000388838.2:p.Arg229Gly
ENST00000435065.7:c.916C>G	ENSP00000402760.2:p.Arg306Gly
ENST00000448810.6:c.844C>G	ENSP00000401860.2:p.Arg282Gly
ENST00000686757.1:c.*8C>G	ENSP00000510721.1:n.*8C>G
ENST00000687740.1:n.3529C>G
ENST00000688151.1:n.2154C>G
ENST00000689271.1:c.691C>G	ENSP00000510797.1:p.Arg231Gly
ENST00000690900.1:c.*8C>G	ENSP00000510703.1:n.*8C>G
ENST00000692212.1:n.788C>G
ENST00000692355.1:c.205-1877C>G
ENST00000692413.1:c.844-18C>G	ENSP00000509374.1:n.844-18C>G
ENST00000692825.1:c.912C>G	ENSP00000509447.1:n.912C>G
ENST00000693308.1:c.892C>G	ENSP00000509770.1:p.Arg298Gly
ENST00000693763.1:n.2004C>G
ENST00000245407.8:c.844C>G MANE Select	ENSP00000245407.3:p.Arg282Gly
ENST00000245407.7:c.844C>G	ENSP00000245407.3:p.Arg282Gly
ENST00000415928.5:c.613C>G	ENSP00000388838.1:p.Arg205Gly
ENST00000435065.6:c.916C>G	ENSP00000402760.2:p.Arg306Gly
ENST00000437841.6:c.*159C>G	ENSP00000400553.1:n.*159C>G
ENST00000448810.5:c.192C>G
ENST00000461013.5:n.8266C>G
NM_001308122.1:c.916C>G	NP_001295051.1:p.Arg306Gly
NM_003060.3:c.844C>G	NP_003051.1:p.Arg282Gly
XM_011543590.1:c.226C>G	XP_011541892.1:p.Arg76Gly
XR_427718.1:n.1204C>G
XR_948290.1:n.1185C>G
XR_948291.1:n.1198C>G
XM_011543590.2:c.226C>G	XP_011541892.1:p.Arg76Gly
XM_017009778.2:c.316C>G	XP_016865267.1:p.Arg106Gly
XR_001742215.1:n.1185C>G
XR_001742216.1:n.1204C>G
XR_427718.2:n.1204C>G
XR_948290.2:n.1185C>G
XR_948291.2:n.1198C>G
NM_003060.4:c.844C>G MANE Select	NP_003051.1:p.Arg282Gly
NM_001308122.2:c.916C>G	NP_001295051.1:p.Arg306Gly