Canonical Allele Identifier: CA360807564

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726448T>G (hg19) ; chr5:g.132390756T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390756T>G , CM000667.2:g.132390756T>G	GRCh38
NC_000005.9:g.131726448T>G , CM000667.1:g.131726448T>G	GRCh37
NC_000005.8:g.131754347T>G	NCBI36
NG_008982.1:g.26048T>G
NG_008982.2:g.26053T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.960T>G	ENSP00000388838.2:p.Phe320Leu
ENST00000435065.7:c.1191T>G	ENSP00000402760.2:p.Phe397Leu
ENST00000448810.6:c.1053-20T>G	ENSP00000401860.2:n.1053-20T>G
ENST00000685543.1:n.1260T>G
ENST00000686757.1:c.*283T>G	ENSP00000510721.1:n.*283T>G
ENST00000687740.1:n.3804T>G
ENST00000688151.1:n.2429T>G
ENST00000689271.1:c.966T>G	ENSP00000510797.1:p.Phe322Leu
ENST00000690900.1:c.*283T>G	ENSP00000510703.1:n.*283T>G
ENST00000692212.1:n.2731T>G
ENST00000692355.1:c.372T>G
ENST00000692413.1:c.1101T>G	ENSP00000509374.1:p.Phe367Leu
ENST00000692825.1:c.1187T>G	ENSP00000509447.1:n.1187T>G
ENST00000693308.1:c.1167T>G	ENSP00000509770.1:p.Phe389Leu
ENST00000693763.1:n.2279T>G
ENST00000245407.8:c.1119T>G MANE Select	ENSP00000245407.3:p.Phe373Leu
ENST00000245407.7:c.1119T>G	ENSP00000245407.3:p.Phe373Leu
ENST00000435065.6:c.1191T>G	ENSP00000402760.2:p.Phe397Leu
ENST00000447841.5:c.112-1677T>G
ENST00000448810.5:c.401-20T>G
ENST00000461013.5:n.8541T>G
ENST00000475308.1:n.1797T>G
ENST00000479605.5:n.222T>G
NM_001308122.1:c.1191T>G	NP_001295051.1:p.Phe397Leu
NM_003060.3:c.1119T>G	NP_003051.1:p.Phe373Leu
XM_011543590.1:c.501T>G	XP_011541892.1:p.Phe167Leu
XR_427718.1:n.1479T>G
XR_948290.1:n.1394-1677T>G
XR_948291.1:n.1473T>G
XM_011543590.2:c.501T>G	XP_011541892.1:p.Phe167Leu
XM_017009778.2:c.591T>G	XP_016865267.1:p.Phe197Leu
XR_001742215.1:n.1394-20T>G
XR_001742216.1:n.1413-20T>G
XR_427718.2:n.1479T>G
XR_948290.2:n.1394-1677T>G
XR_948291.2:n.1473T>G
NM_003060.4:c.1119T>G MANE Select	NP_003051.1:p.Phe373Leu
NM_001308122.2:c.1191T>G	NP_001295051.1:p.Phe397Leu