Canonical Allele Identifier: CA360804976

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721038A>G (hg19) ; chr5:g.132385346A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385346A>G , CM000667.2:g.132385346A>G	GRCh38
NC_000005.9:g.131721038A>G , CM000667.1:g.131721038A>G	GRCh37
NC_000005.8:g.131748937A>G	NCBI36
NG_008982.1:g.20638A>G
NG_008982.2:g.20643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1032A>G	ENSP00000388838.2:n.665+1032A>G
ENST00000435065.7:c.743A>G	ENSP00000402760.2:p.Lys248Arg
ENST00000448810.6:c.671A>G	ENSP00000401860.2:p.Lys224Arg
ENST00000686757.1:c.690A>G	ENSP00000510721.1:p.Gln230=
ENST00000687740.1:n.1831A>G
ENST00000688151.1:n.1863A>G
ENST00000689271.1:c.671+1026A>G	ENSP00000510797.1:n.671+1026A>G
ENST00000690900.1:c.672-30A>G	ENSP00000510703.1:n.672-30A>G
ENST00000692212.1:n.497A>G
ENST00000692355.1:c.204+1045A>G
ENST00000692413.1:c.690A>G	ENSP00000509374.1:p.Gln230=
ENST00000692825.1:c.739A>G	ENSP00000509447.1:n.739A>G
ENST00000693308.1:c.684A>G	ENSP00000509770.1:p.Gln228=
ENST00000693763.1:n.1831A>G
ENST00000245407.8:c.671A>G MANE Select	ENSP00000245407.3:p.Lys224Arg
ENST00000245407.7:c.671A>G	ENSP00000245407.3:p.Lys224Arg
ENST00000415928.5:c.440A>G	ENSP00000388838.1:p.Lys147Arg
ENST00000435065.6:c.743A>G	ENSP00000402760.2:p.Lys248Arg
ENST00000437841.6:c.412A>G	ENSP00000400553.1:p.Ser138Gly
ENST00000448810.5:c.19A>G
ENST00000461013.5:n.8093A>G
NM_001308122.1:c.743A>G	NP_001295051.1:p.Lys248Arg
NM_003060.3:c.671A>G	NP_003051.1:p.Lys224Arg
XM_011543590.1:c.53A>G	XP_011541892.1:p.Lys18Arg
XR_427718.1:n.1031A>G
XR_948290.1:n.1012A>G
XR_948291.1:n.1025A>G
XM_011543590.2:c.53A>G	XP_011541892.1:p.Lys18Arg
XM_017009778.2:c.143A>G	XP_016865267.1:p.Lys48Arg
XR_001742215.1:n.1012A>G
XR_001742216.1:n.1031A>G
XR_427718.2:n.1031A>G
XR_948290.2:n.1012A>G
XR_948291.2:n.1025A>G
NM_003060.4:c.671A>G MANE Select	NP_003051.1:p.Lys224Arg
NM_001308122.2:c.743A>G	NP_001295051.1:p.Lys248Arg