Canonical Allele Identifier: CA360805006

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721056T>A (hg19) ; chr5:g.132385364T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385364T>A , CM000667.2:g.132385364T>A	GRCh38
NC_000005.9:g.131721056T>A , CM000667.1:g.131721056T>A	GRCh37
NC_000005.8:g.131748955T>A	NCBI36
NG_008982.1:g.20656T>A
NG_008982.2:g.20661T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1050T>A	ENSP00000388838.2:n.665+1050T>A
ENST00000435065.7:c.761T>A	ENSP00000402760.2:p.Phe254Tyr
ENST00000448810.6:c.689T>A	ENSP00000401860.2:p.Phe230Tyr
ENST00000686757.1:c.708T>A	ENSP00000510721.1:p.Ile236=
ENST00000687740.1:n.1849T>A
ENST00000688151.1:n.1881T>A
ENST00000689271.1:c.671+1044T>A	ENSP00000510797.1:n.671+1044T>A
ENST00000690900.1:c.672-12T>A	ENSP00000510703.1:n.672-12T>A
ENST00000692212.1:n.515T>A
ENST00000692355.1:c.204+1063T>A
ENST00000692413.1:c.708T>A	ENSP00000509374.1:p.Ile236=
ENST00000692825.1:c.757T>A	ENSP00000509447.1:n.757T>A
ENST00000693308.1:c.702T>A	ENSP00000509770.1:p.Ile234=
ENST00000693763.1:n.1849T>A
ENST00000245407.8:c.689T>A MANE Select	ENSP00000245407.3:p.Phe230Tyr
ENST00000245407.7:c.689T>A	ENSP00000245407.3:p.Phe230Tyr
ENST00000415928.5:c.458T>A	ENSP00000388838.1:p.Phe153Tyr
ENST00000435065.6:c.761T>A	ENSP00000402760.2:p.Phe254Tyr
ENST00000437841.6:c.*4T>A	ENSP00000400553.1:n.*4T>A
ENST00000448810.5:c.37T>A
ENST00000461013.5:n.8111T>A
NM_001308122.1:c.761T>A	NP_001295051.1:p.Phe254Tyr
NM_003060.3:c.689T>A	NP_003051.1:p.Phe230Tyr
XM_011543590.1:c.71T>A	XP_011541892.1:p.Phe24Tyr
XR_427718.1:n.1049T>A
XR_948290.1:n.1030T>A
XR_948291.1:n.1043T>A
XM_011543590.2:c.71T>A	XP_011541892.1:p.Phe24Tyr
XM_017009778.2:c.161T>A	XP_016865267.1:p.Phe54Tyr
XR_001742215.1:n.1030T>A
XR_001742216.1:n.1049T>A
XR_427718.2:n.1049T>A
XR_948290.2:n.1030T>A
XR_948291.2:n.1043T>A
NM_003060.4:c.689T>A MANE Select	NP_003051.1:p.Phe230Tyr
NM_001308122.2:c.761T>A	NP_001295051.1:p.Phe254Tyr