Canonical Allele Identifier: CA360805568

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722752A>G (hg19) ; chr5:g.132387060A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387060A>G , CM000667.2:g.132387060A>G	GRCh38
NC_000005.9:g.131722752A>G , CM000667.1:g.131722752A>G	GRCh37
NC_000005.8:g.131750651A>G	NCBI36
NG_008982.1:g.22352A>G
NG_008982.2:g.22357A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.701A>G	ENSP00000388838.2:p.Gln234Arg
ENST00000435065.7:c.932A>G	ENSP00000402760.2:p.Gln311Arg
ENST00000448810.6:c.860A>G	ENSP00000401860.2:p.Gln287Arg
ENST00000686757.1:c.*24A>G	ENSP00000510721.1:n.*24A>G
ENST00000687740.1:n.3545A>G
ENST00000688151.1:n.2170A>G
ENST00000689271.1:c.707A>G	ENSP00000510797.1:p.Gln236Arg
ENST00000690900.1:c.*24A>G	ENSP00000510703.1:n.*24A>G
ENST00000692212.1:n.804A>G
ENST00000692355.1:c.205-1861A>G
ENST00000692413.1:c.844-2A>G	ENSP00000509374.1:n.844-2A>G
ENST00000692825.1:c.928A>G	ENSP00000509447.1:n.928A>G
ENST00000693308.1:c.908A>G	ENSP00000509770.1:p.Gln303Arg
ENST00000693763.1:n.2020A>G
ENST00000245407.8:c.860A>G MANE Select	ENSP00000245407.3:p.Gln287Arg
ENST00000245407.7:c.860A>G	ENSP00000245407.3:p.Gln287Arg
ENST00000415928.5:c.629A>G	ENSP00000388838.1:p.Gln210Arg
ENST00000435065.6:c.932A>G	ENSP00000402760.2:p.Gln311Arg
ENST00000437841.6:c.*175A>G	ENSP00000400553.1:n.*175A>G
ENST00000448810.5:c.208A>G
ENST00000461013.5:n.8282A>G
NM_001308122.1:c.932A>G	NP_001295051.1:p.Gln311Arg
NM_003060.3:c.860A>G	NP_003051.1:p.Gln287Arg
XM_011543590.1:c.242A>G	XP_011541892.1:p.Gln81Arg
XR_427718.1:n.1220A>G
XR_948290.1:n.1201A>G
XR_948291.1:n.1214A>G
XM_011543590.2:c.242A>G	XP_011541892.1:p.Gln81Arg
XM_017009778.2:c.332A>G	XP_016865267.1:p.Gln111Arg
XR_001742215.1:n.1201A>G
XR_001742216.1:n.1220A>G
XR_427718.2:n.1220A>G
XR_948290.2:n.1201A>G
XR_948291.2:n.1214A>G
NM_003060.4:c.860A>G MANE Select	NP_003051.1:p.Gln287Arg
NM_001308122.2:c.932A>G	NP_001295051.1:p.Gln311Arg