Canonical Allele Identifier: CA446332517
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131722729G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387037G>A , CM000667.2:g.132387037G>A GRCh38
NC_000005.9:g.131722729G>A , CM000667.1:g.131722729G>A GRCh37
NC_000005.8:g.131750628G>A NCBI36
NG_008982.1:g.22329G>A
NG_008982.2:g.22334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.678G>A ENSP00000388838.2:p.Glu226=
ENST00000435065.7:c.909G>A ENSP00000402760.2:p.Glu303=
ENST00000448810.6:c.837G>A ENSP00000401860.2:p.Glu279=
ENST00000686757.1:c.*1G>A ENSP00000510721.1:n.*1G>A
ENST00000687740.1:n.3522G>A
ENST00000688151.1:n.2147G>A
ENST00000689271.1:c.684G>A ENSP00000510797.1:p.Glu228=
ENST00000690900.1:c.*1G>A ENSP00000510703.1:n.*1G>A
ENST00000692212.1:n.781G>A
ENST00000692355.1:c.205-1884G>A
ENST00000692413.1:c.844-25G>A ENSP00000509374.1:n.844-25G>A
ENST00000692825.1:c.905G>A ENSP00000509447.1:n.905G>A
ENST00000693308.1:c.885G>A ENSP00000509770.1:p.Glu295=
ENST00000693763.1:n.1997G>A
ENST00000245407.8:c.837G>A MANE Select ENSP00000245407.3:p.Glu279=
ENST00000245407.7:c.837G>A ENSP00000245407.3:p.Glu279=
ENST00000415928.5:c.606G>A ENSP00000388838.1:p.Glu202=
ENST00000435065.6:c.909G>A ENSP00000402760.2:p.Glu303=
ENST00000437841.6:c.*152G>A ENSP00000400553.1:n.*152G>A
ENST00000448810.5:c.185G>A
ENST00000461013.5:n.8259G>A
NM_001308122.1:c.909G>A NP_001295051.1:p.Glu303=
NM_003060.3:c.837G>A NP_003051.1:p.Glu279=
XM_011543590.1:c.219G>A XP_011541892.1:p.Glu73=
XR_427718.1:n.1197G>A
XR_948290.1:n.1178G>A
XR_948291.1:n.1191G>A
XM_011543590.2:c.219G>A XP_011541892.1:p.Glu73=
XM_017009778.2:c.309G>A XP_016865267.1:p.Glu103=
XR_001742215.1:n.1178G>A
XR_001742216.1:n.1197G>A
XR_427718.2:n.1197G>A
XR_948290.2:n.1178G>A
XR_948291.2:n.1191G>A
NM_003060.4:c.837G>A MANE Select NP_003051.1:p.Glu279=
NM_001308122.2:c.909G>A NP_001295051.1:p.Glu303=