Canonical Allele Identifier: CA234954

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 167699
• ClinVar RCV Id: RCV000153965
• dbSNP Id: rs727504161
• MyVariant Identifiers: chr5:g.131729403G>A (hg19) ; chr5:g.132393711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393711G>A , CM000667.2:g.132393711G>A	GRCh38
NC_000005.9:g.131729403G>A , CM000667.1:g.131729403G>A	GRCh37
NC_000005.8:g.131757302G>A	NCBI36
NG_008982.1:g.29003G>A
NG_008982.2:g.29008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-474G>A	ENSP00000388838.2:n.1292-474G>A
ENST00000435065.7:c.1558G>A	ENSP00000402760.2:p.Gly520Arg
ENST00000448810.6:c.*338G>A	ENSP00000401860.2:n.*338G>A
ENST00000685543.1:n.1627G>A
ENST00000686757.1:c.*650G>A	ENSP00000510721.1:n.*650G>A
ENST00000686868.1:n.478G>A
ENST00000687740.1:n.4171G>A
ENST00000688151.1:n.2796G>A
ENST00000689271.1:c.1333G>A	ENSP00000510797.1:p.Gly445Arg
ENST00000690900.1:c.*650G>A	ENSP00000510703.1:n.*650G>A
ENST00000692212.1:n.4626G>A
ENST00000692355.1:c.739G>A
ENST00000692413.1:c.1468G>A	ENSP00000509374.1:p.Gly490Arg
ENST00000692825.1:c.1554G>A	ENSP00000509447.1:n.1554G>A
ENST00000693308.1:c.1534G>A	ENSP00000509770.1:p.Gly512Arg
ENST00000693763.1:n.2646G>A
ENST00000245407.8:c.1486G>A MANE Select	ENSP00000245407.3:p.Gly496Arg
ENST00000245407.7:c.1486G>A	ENSP00000245407.3:p.Gly496Arg
ENST00000435065.6:c.1558G>A	ENSP00000402760.2:p.Gly520Arg
ENST00000447841.5:c.330G>A
ENST00000448810.5:c.748G>A
ENST00000461013.5:n.8908G>A
ENST00000475308.1:n.2164G>A
NM_001308122.1:c.1558G>A	NP_001295051.1:p.Gly520Arg
NM_003060.3:c.1486G>A	NP_003051.1:p.Gly496Arg
XM_011543590.1:c.868G>A	XP_011541892.1:p.Gly290Arg
XR_948290.1:n.1612G>A
XM_011543590.2:c.868G>A	XP_011541892.1:p.Gly290Arg
XM_017009778.2:c.958G>A	XP_016865267.1:p.Gly320Arg
XR_001742215.1:n.1741G>A
XR_001742216.1:n.1760G>A
XR_427718.2:n.1846G>A
XR_948290.2:n.1612G>A
XR_948291.2:n.1840G>A
NM_003060.4:c.1486G>A MANE Select	NP_003051.1:p.Gly496Arg
NM_001308122.2:c.1558G>A	NP_001295051.1:p.Gly520Arg