Canonical Allele Identifier: CA360807822

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726575T>A (hg19) ; chr5:g.132390883T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390883T>A , CM000667.2:g.132390883T>A	GRCh38
NC_000005.9:g.131726575T>A , CM000667.1:g.131726575T>A	GRCh37
NC_000005.8:g.131754474T>A	NCBI36
NG_008982.1:g.26175T>A
NG_008982.2:g.26180T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1087T>A	ENSP00000388838.2:p.Phe363Ile
ENST00000435065.7:c.1318T>A	ENSP00000402760.2:p.Phe440Ile
ENST00000448810.6:c.*98T>A	ENSP00000401860.2:n.*98T>A
ENST00000685543.1:n.1387T>A
ENST00000686757.1:c.*410T>A	ENSP00000510721.1:n.*410T>A
ENST00000687740.1:n.3931T>A
ENST00000688151.1:n.2556T>A
ENST00000689271.1:c.1093T>A	ENSP00000510797.1:p.Phe365Ile
ENST00000690900.1:c.*410T>A	ENSP00000510703.1:n.*410T>A
ENST00000692212.1:n.2858T>A
ENST00000692355.1:c.499T>A
ENST00000692413.1:c.1228T>A	ENSP00000509374.1:p.Phe410Ile
ENST00000692825.1:c.1314T>A	ENSP00000509447.1:n.1314T>A
ENST00000693308.1:c.1294T>A	ENSP00000509770.1:p.Phe432Ile
ENST00000693763.1:n.2406T>A
ENST00000245407.8:c.1246T>A MANE Select	ENSP00000245407.3:p.Phe416Ile
ENST00000245407.7:c.1246T>A	ENSP00000245407.3:p.Phe416Ile
ENST00000435065.6:c.1318T>A	ENSP00000402760.2:p.Phe440Ile
ENST00000447841.5:c.112-1550T>A
ENST00000448810.5:c.508T>A
ENST00000461013.5:n.8668T>A
ENST00000475308.1:n.1924T>A
ENST00000479605.5:n.349T>A
NM_001308122.1:c.1318T>A	NP_001295051.1:p.Phe440Ile
NM_003060.3:c.1246T>A	NP_003051.1:p.Phe416Ile
XM_011543590.1:c.628T>A	XP_011541892.1:p.Phe210Ile
XR_427718.1:n.1606T>A
XR_948290.1:n.1394-1550T>A
XR_948291.1:n.1600T>A
XM_011543590.2:c.628T>A	XP_011541892.1:p.Phe210Ile
XM_017009778.2:c.718T>A	XP_016865267.1:p.Phe240Ile
XR_001742215.1:n.1501T>A
XR_001742216.1:n.1520T>A
XR_427718.2:n.1606T>A
XR_948290.2:n.1394-1550T>A
XR_948291.2:n.1600T>A
NM_003060.4:c.1246T>A MANE Select	NP_003051.1:p.Phe416Ile
NM_001308122.2:c.1318T>A	NP_001295051.1:p.Phe440Ile