Canonical Allele Identifier: CA342646

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385436G>A , CM000667.2:g.132385436G>A	GRCh38
NC_000005.9:g.131721128G>A , CM000667.1:g.131721128G>A	GRCh37
NC_000005.8:g.131749027G>A	NCBI36
NG_008982.1:g.20728G>A
NG_008982.2:g.20733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1122G>A	ENSP00000388838.2:n.665+1122G>A
ENST00000435065.7:c.833G>A	ENSP00000402760.2:p.Arg278Gln
ENST00000448810.6:c.761G>A	ENSP00000401860.2:p.Arg254Gln
ENST00000686757.1:c.780G>A	ENSP00000510721.1:p.Pro260=
ENST00000687740.1:n.1921G>A
ENST00000688151.1:n.1953G>A
ENST00000689271.1:c.671+1116G>A	ENSP00000510797.1:n.671+1116G>A
ENST00000690900.1:c.732G>A	ENSP00000510703.1:p.Pro244=
ENST00000692212.1:n.587G>A
ENST00000692355.1:c.204+1135G>A
ENST00000692413.1:c.780G>A	ENSP00000509374.1:p.Pro260=
ENST00000692825.1:c.829G>A	ENSP00000509447.1:n.829G>A
ENST00000693308.1:c.774G>A	ENSP00000509770.1:p.Pro258=
ENST00000693763.1:n.1921G>A
ENST00000245407.8:c.761G>A MANE Select	ENSP00000245407.3:p.Arg254Gln
ENST00000245407.7:c.761G>A	ENSP00000245407.3:p.Arg254Gln
ENST00000415928.5:c.530G>A	ENSP00000388838.1:p.Arg177Gln
ENST00000435065.6:c.833G>A	ENSP00000402760.2:p.Arg278Gln
ENST00000437841.6:c.*76G>A	ENSP00000400553.1:n.*76G>A
ENST00000448810.5:c.109G>A
ENST00000461013.5:n.8183G>A
NM_001308122.1:c.833G>A	NP_001295051.1:p.Arg278Gln
NM_003060.3:c.761G>A	NP_003051.1:p.Arg254Gln
XM_011543590.1:c.143G>A	XP_011541892.1:p.Arg48Gln
XR_427718.1:n.1121G>A
XR_948290.1:n.1102G>A
XR_948291.1:n.1115G>A
XM_011543590.2:c.143G>A	XP_011541892.1:p.Arg48Gln
XM_017009778.2:c.233G>A	XP_016865267.1:p.Arg78Gln
XR_001742215.1:n.1102G>A
XR_001742216.1:n.1121G>A
XR_427718.2:n.1121G>A
XR_948290.2:n.1102G>A
XR_948291.2:n.1115G>A
NM_003060.4:c.761G>A MANE Select	NP_003051.1:p.Arg254Gln
NM_001308122.2:c.833G>A	NP_001295051.1:p.Arg278Gln