Canonical Allele Identifier: CA360807722

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726524C>G (hg19) ; chr5:g.132390832C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390832C>G , CM000667.2:g.132390832C>G	GRCh38
NC_000005.9:g.131726524C>G , CM000667.1:g.131726524C>G	GRCh37
NC_000005.8:g.131754423C>G	NCBI36
NG_008982.1:g.26124C>G
NG_008982.2:g.26129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1036C>G	ENSP00000388838.2:p.Arg346Gly
ENST00000435065.7:c.1267C>G	ENSP00000402760.2:p.Arg423Gly
ENST00000448810.6:c.*47C>G	ENSP00000401860.2:n.*47C>G
ENST00000685543.1:n.1336C>G
ENST00000686757.1:c.*359C>G	ENSP00000510721.1:n.*359C>G
ENST00000687740.1:n.3880C>G
ENST00000688151.1:n.2505C>G
ENST00000689271.1:c.1042C>G	ENSP00000510797.1:p.Arg348Gly
ENST00000690900.1:c.*359C>G	ENSP00000510703.1:n.*359C>G
ENST00000692212.1:n.2807C>G
ENST00000692355.1:c.448C>G
ENST00000692413.1:c.1177C>G	ENSP00000509374.1:p.Arg393Gly
ENST00000692825.1:c.1263C>G	ENSP00000509447.1:n.1263C>G
ENST00000693308.1:c.1243C>G	ENSP00000509770.1:p.Arg415Gly
ENST00000693763.1:n.2355C>G
ENST00000245407.8:c.1195C>G MANE Select	ENSP00000245407.3:p.Arg399Gly
ENST00000245407.7:c.1195C>G	ENSP00000245407.3:p.Arg399Gly
ENST00000435065.6:c.1267C>G	ENSP00000402760.2:p.Arg423Gly
ENST00000447841.5:c.112-1601C>G
ENST00000448810.5:c.457C>G
ENST00000461013.5:n.8617C>G
ENST00000475308.1:n.1873C>G
ENST00000479605.5:n.298C>G
NM_001308122.1:c.1267C>G	NP_001295051.1:p.Arg423Gly
NM_003060.3:c.1195C>G	NP_003051.1:p.Arg399Gly
XM_011543590.1:c.577C>G	XP_011541892.1:p.Arg193Gly
XR_427718.1:n.1555C>G
XR_948290.1:n.1394-1601C>G
XR_948291.1:n.1549C>G
XM_011543590.2:c.577C>G	XP_011541892.1:p.Arg193Gly
XM_017009778.2:c.667C>G	XP_016865267.1:p.Arg223Gly
XR_001742215.1:n.1450C>G
XR_001742216.1:n.1469C>G
XR_427718.2:n.1555C>G
XR_948290.2:n.1394-1601C>G
XR_948291.2:n.1549C>G
NM_003060.4:c.1195C>G MANE Select	NP_003051.1:p.Arg399Gly
NM_001308122.2:c.1267C>G	NP_001295051.1:p.Arg423Gly