Canonical Allele Identifier: CA360804948

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132385333-G-A
• MyVariant Identifiers: chr5:g.131721025G>A (hg19) ; chr5:g.132385333G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385333G>A , CM000667.2:g.132385333G>A	GRCh38
NC_000005.9:g.131721025G>A , CM000667.1:g.131721025G>A	GRCh37
NC_000005.8:g.131748924G>A	NCBI36
NG_008982.1:g.20625G>A
NG_008982.2:g.20630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1019G>A	ENSP00000388838.2:n.665+1019G>A
ENST00000435065.7:c.730G>A	ENSP00000402760.2:p.Glu244Lys
ENST00000448810.6:c.658G>A	ENSP00000401860.2:p.Glu220Lys
ENST00000686757.1:c.677G>A	ENSP00000510721.1:p.Arg226Lys
ENST00000687740.1:n.1818G>A
ENST00000688151.1:n.1850G>A
ENST00000689271.1:c.671+1013G>A	ENSP00000510797.1:n.671+1013G>A
ENST00000690900.1:c.672-43G>A	ENSP00000510703.1:n.672-43G>A
ENST00000692212.1:n.484G>A
ENST00000692355.1:c.204+1032G>A
ENST00000692413.1:c.677G>A	ENSP00000509374.1:p.Arg226Lys
ENST00000692825.1:c.726G>A	ENSP00000509447.1:n.726G>A
ENST00000693308.1:c.671G>A	ENSP00000509770.1:p.Arg224Lys
ENST00000693763.1:n.1818G>A
ENST00000245407.8:c.658G>A MANE Select	ENSP00000245407.3:p.Glu220Lys
ENST00000245407.7:c.658G>A	ENSP00000245407.3:p.Glu220Lys
ENST00000415928.5:c.427G>A	ENSP00000388838.1:p.Glu143Lys
ENST00000435065.6:c.730G>A	ENSP00000402760.2:p.Glu244Lys
ENST00000437841.6:c.399G>A	ENSP00000400553.1:p.Gln133=
ENST00000448810.5:c.6G>A
ENST00000461013.5:n.8080G>A
NM_001308122.1:c.730G>A	NP_001295051.1:p.Glu244Lys
NM_003060.3:c.658G>A	NP_003051.1:p.Glu220Lys
XM_011543590.1:c.40G>A	XP_011541892.1:p.Glu14Lys
XR_427718.1:n.1018G>A
XR_948290.1:n.999G>A
XR_948291.1:n.1012G>A
XM_011543590.2:c.40G>A	XP_011541892.1:p.Glu14Lys
XM_017009778.2:c.130G>A	XP_016865267.1:p.Glu44Lys
XR_001742215.1:n.999G>A
XR_001742216.1:n.1018G>A
XR_427718.2:n.1018G>A
XR_948290.2:n.999G>A
XR_948291.2:n.1012G>A
NM_003060.4:c.658G>A MANE Select	NP_003051.1:p.Glu220Lys
NM_001308122.2:c.730G>A	NP_001295051.1:p.Glu244Lys