Canonical Allele Identifier: CA360807584

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726458T>A (hg19) ; chr5:g.132390766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390766T>A , CM000667.2:g.132390766T>A	GRCh38
NC_000005.9:g.131726458T>A , CM000667.1:g.131726458T>A	GRCh37
NC_000005.8:g.131754357T>A	NCBI36
NG_008982.1:g.26058T>A
NG_008982.2:g.26063T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.970T>A	ENSP00000388838.2:p.Phe324Ile
ENST00000435065.7:c.1201T>A	ENSP00000402760.2:p.Phe401Ile
ENST00000448810.6:c.1053-10T>A	ENSP00000401860.2:n.1053-10T>A
ENST00000685543.1:n.1270T>A
ENST00000686757.1:c.*293T>A	ENSP00000510721.1:n.*293T>A
ENST00000687740.1:n.3814T>A
ENST00000688151.1:n.2439T>A
ENST00000689271.1:c.976T>A	ENSP00000510797.1:p.Phe326Ile
ENST00000690900.1:c.*293T>A	ENSP00000510703.1:n.*293T>A
ENST00000692212.1:n.2741T>A
ENST00000692355.1:c.382T>A
ENST00000692413.1:c.1111T>A	ENSP00000509374.1:p.Phe371Ile
ENST00000692825.1:c.1197T>A	ENSP00000509447.1:n.1197T>A
ENST00000693308.1:c.1177T>A	ENSP00000509770.1:p.Phe393Ile
ENST00000693763.1:n.2289T>A
ENST00000245407.8:c.1129T>A MANE Select	ENSP00000245407.3:p.Phe377Ile
ENST00000245407.7:c.1129T>A	ENSP00000245407.3:p.Phe377Ile
ENST00000435065.6:c.1201T>A	ENSP00000402760.2:p.Phe401Ile
ENST00000447841.5:c.112-1667T>A
ENST00000448810.5:c.401-10T>A
ENST00000461013.5:n.8551T>A
ENST00000475308.1:n.1807T>A
ENST00000479605.5:n.232T>A
NM_001308122.1:c.1201T>A	NP_001295051.1:p.Phe401Ile
NM_003060.3:c.1129T>A	NP_003051.1:p.Phe377Ile
XM_011543590.1:c.511T>A	XP_011541892.1:p.Phe171Ile
XR_427718.1:n.1489T>A
XR_948290.1:n.1394-1667T>A
XR_948291.1:n.1483T>A
XM_011543590.2:c.511T>A	XP_011541892.1:p.Phe171Ile
XM_017009778.2:c.601T>A	XP_016865267.1:p.Phe201Ile
XR_001742215.1:n.1394-10T>A
XR_001742216.1:n.1413-10T>A
XR_427718.2:n.1489T>A
XR_948290.2:n.1394-1667T>A
XR_948291.2:n.1483T>A
NM_003060.4:c.1129T>A MANE Select	NP_003051.1:p.Phe377Ile
NM_001308122.2:c.1201T>A	NP_001295051.1:p.Phe401Ile