Canonical Allele Identifier: CA360807621

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390784-G-A
• MyVariant Identifiers: chr5:g.131726476G>A (hg19) ; chr5:g.132390784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390784G>A , CM000667.2:g.132390784G>A	GRCh38
NC_000005.9:g.131726476G>A , CM000667.1:g.131726476G>A	GRCh37
NC_000005.8:g.131754375G>A	NCBI36
NG_008982.1:g.26076G>A
NG_008982.2:g.26081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.988G>A	ENSP00000388838.2:p.Glu330Lys
ENST00000435065.7:c.1219G>A	ENSP00000402760.2:p.Glu407Lys
ENST00000448810.6:c.1061G>A	ENSP00000401860.2:p.Ter354=
ENST00000685543.1:n.1288G>A
ENST00000686757.1:c.*311G>A	ENSP00000510721.1:n.*311G>A
ENST00000687740.1:n.3832G>A
ENST00000688151.1:n.2457G>A
ENST00000689271.1:c.994G>A	ENSP00000510797.1:p.Glu332Lys
ENST00000690900.1:c.*311G>A	ENSP00000510703.1:n.*311G>A
ENST00000692212.1:n.2759G>A
ENST00000692355.1:c.400G>A
ENST00000692413.1:c.1129G>A	ENSP00000509374.1:p.Glu377Lys
ENST00000692825.1:c.1215G>A	ENSP00000509447.1:n.1215G>A
ENST00000693308.1:c.1195G>A	ENSP00000509770.1:p.Glu399Lys
ENST00000693763.1:n.2307G>A
ENST00000245407.8:c.1147G>A MANE Select	ENSP00000245407.3:p.Glu383Lys
ENST00000245407.7:c.1147G>A	ENSP00000245407.3:p.Glu383Lys
ENST00000435065.6:c.1219G>A	ENSP00000402760.2:p.Glu407Lys
ENST00000447841.5:c.112-1649G>A
ENST00000448810.5:c.409G>A
ENST00000461013.5:n.8569G>A
ENST00000475308.1:n.1825G>A
ENST00000479605.5:n.250G>A
NM_001308122.1:c.1219G>A	NP_001295051.1:p.Glu407Lys
NM_003060.3:c.1147G>A	NP_003051.1:p.Glu383Lys
XM_011543590.1:c.529G>A	XP_011541892.1:p.Glu177Lys
XR_427718.1:n.1507G>A
XR_948290.1:n.1394-1649G>A
XR_948291.1:n.1501G>A
XM_011543590.2:c.529G>A	XP_011541892.1:p.Glu177Lys
XM_017009778.2:c.619G>A	XP_016865267.1:p.Glu207Lys
XR_001742215.1:n.1402G>A
XR_001742216.1:n.1421G>A
XR_427718.2:n.1507G>A
XR_948290.2:n.1394-1649G>A
XR_948291.2:n.1501G>A
NM_003060.4:c.1147G>A MANE Select	NP_003051.1:p.Glu383Lys
NM_001308122.2:c.1219G>A	NP_001295051.1:p.Glu407Lys