Canonical Allele Identifier: CA446339847

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726556G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390864G>A , CM000667.2:g.132390864G>A	GRCh38
NC_000005.9:g.131726556G>A , CM000667.1:g.131726556G>A	GRCh37
NC_000005.8:g.131754455G>A	NCBI36
NG_008982.1:g.26156G>A
NG_008982.2:g.26161G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1068G>A	ENSP00000388838.2:p.Leu356=
ENST00000435065.7:c.1299G>A	ENSP00000402760.2:p.Leu433=
ENST00000448810.6:c.*79G>A	ENSP00000401860.2:n.*79G>A
ENST00000685543.1:n.1368G>A
ENST00000686757.1:c.*391G>A	ENSP00000510721.1:n.*391G>A
ENST00000687740.1:n.3912G>A
ENST00000688151.1:n.2537G>A
ENST00000689271.1:c.1074G>A	ENSP00000510797.1:p.Leu358=
ENST00000690900.1:c.*391G>A	ENSP00000510703.1:n.*391G>A
ENST00000692212.1:n.2839G>A
ENST00000692355.1:c.480G>A
ENST00000692413.1:c.1209G>A	ENSP00000509374.1:p.Leu403=
ENST00000692825.1:c.1295G>A	ENSP00000509447.1:n.1295G>A
ENST00000693308.1:c.1275G>A	ENSP00000509770.1:p.Leu425=
ENST00000693763.1:n.2387G>A
ENST00000245407.8:c.1227G>A MANE Select	ENSP00000245407.3:p.Leu409=
ENST00000245407.7:c.1227G>A	ENSP00000245407.3:p.Leu409=
ENST00000435065.6:c.1299G>A	ENSP00000402760.2:p.Leu433=
ENST00000447841.5:c.112-1569G>A
ENST00000448810.5:c.489G>A
ENST00000461013.5:n.8649G>A
ENST00000475308.1:n.1905G>A
ENST00000479605.5:n.330G>A
NM_001308122.1:c.1299G>A	NP_001295051.1:p.Leu433=
NM_003060.3:c.1227G>A	NP_003051.1:p.Leu409=
XM_011543590.1:c.609G>A	XP_011541892.1:p.Leu203=
XR_427718.1:n.1587G>A
XR_948290.1:n.1394-1569G>A
XR_948291.1:n.1581G>A
XM_011543590.2:c.609G>A	XP_011541892.1:p.Leu203=
XM_017009778.2:c.699G>A	XP_016865267.1:p.Leu233=
XR_001742215.1:n.1482G>A
XR_001742216.1:n.1501G>A
XR_427718.2:n.1587G>A
XR_948290.2:n.1394-1569G>A
XR_948291.2:n.1581G>A
NM_003060.4:c.1227G>A MANE Select	NP_003051.1:p.Leu409=
NM_001308122.2:c.1299G>A	NP_001295051.1:p.Leu433=