Canonical Allele Identifier: CA360805520

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722727G>A (hg19) ; chr5:g.132387035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387035G>A , CM000667.2:g.132387035G>A	GRCh38
NC_000005.9:g.131722727G>A , CM000667.1:g.131722727G>A	GRCh37
NC_000005.8:g.131750626G>A	NCBI36
NG_008982.1:g.22327G>A
NG_008982.2:g.22332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.676G>A	ENSP00000388838.2:p.Glu226Lys
ENST00000435065.7:c.907G>A	ENSP00000402760.2:p.Glu303Lys
ENST00000448810.6:c.835G>A	ENSP00000401860.2:p.Glu279Lys
ENST00000686757.1:c.854G>A	ENSP00000510721.1:p.Ter285=
ENST00000687740.1:n.3520G>A
ENST00000688151.1:n.2145G>A
ENST00000689271.1:c.682G>A	ENSP00000510797.1:p.Glu228Lys
ENST00000690900.1:c.806G>A	ENSP00000510703.1:p.Ter269=
ENST00000692212.1:n.779G>A
ENST00000692355.1:c.205-1886G>A
ENST00000692413.1:c.844-27G>A	ENSP00000509374.1:n.844-27G>A
ENST00000692825.1:c.903G>A	ENSP00000509447.1:n.903G>A
ENST00000693308.1:c.883G>A	ENSP00000509770.1:p.Glu295Lys
ENST00000693763.1:n.1995G>A
ENST00000245407.8:c.835G>A MANE Select	ENSP00000245407.3:p.Glu279Lys
ENST00000245407.7:c.835G>A	ENSP00000245407.3:p.Glu279Lys
ENST00000415928.5:c.604G>A	ENSP00000388838.1:p.Glu202Lys
ENST00000435065.6:c.907G>A	ENSP00000402760.2:p.Glu303Lys
ENST00000437841.6:c.*150G>A	ENSP00000400553.1:n.*150G>A
ENST00000448810.5:c.183G>A
ENST00000461013.5:n.8257G>A
NM_001308122.1:c.907G>A	NP_001295051.1:p.Glu303Lys
NM_003060.3:c.835G>A	NP_003051.1:p.Glu279Lys
XM_011543590.1:c.217G>A	XP_011541892.1:p.Glu73Lys
XR_427718.1:n.1195G>A
XR_948290.1:n.1176G>A
XR_948291.1:n.1189G>A
XM_011543590.2:c.217G>A	XP_011541892.1:p.Glu73Lys
XM_017009778.2:c.307G>A	XP_016865267.1:p.Glu103Lys
XR_001742215.1:n.1176G>A
XR_001742216.1:n.1195G>A
XR_427718.2:n.1195G>A
XR_948290.2:n.1176G>A
XR_948291.2:n.1189G>A
NM_003060.4:c.835G>A MANE Select	NP_003051.1:p.Glu279Lys
NM_001308122.2:c.907G>A	NP_001295051.1:p.Glu303Lys