Canonical Allele Identifier: CA446330091
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721030T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385338T>A , CM000667.2:g.132385338T>A GRCh38
NC_000005.9:g.131721030T>A , CM000667.1:g.131721030T>A GRCh37
NC_000005.8:g.131748929T>A NCBI36
NG_008982.1:g.20630T>A
NG_008982.2:g.20635T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1024T>A ENSP00000388838.2:n.665+1024T>A
ENST00000435065.7:c.735T>A ENSP00000402760.2:p.Ile245=
ENST00000448810.6:c.663T>A ENSP00000401860.2:p.Ile221=
ENST00000686757.1:c.682T>A ENSP00000510721.1:p.Ser228Thr
ENST00000687740.1:n.1823T>A
ENST00000688151.1:n.1855T>A
ENST00000689271.1:c.671+1018T>A ENSP00000510797.1:n.671+1018T>A
ENST00000690900.1:c.672-38T>A ENSP00000510703.1:n.672-38T>A
ENST00000692212.1:n.489T>A
ENST00000692355.1:c.204+1037T>A
ENST00000692413.1:c.682T>A ENSP00000509374.1:p.Ser228Thr
ENST00000692825.1:c.731T>A ENSP00000509447.1:n.731T>A
ENST00000693308.1:c.676T>A ENSP00000509770.1:p.Ser226Thr
ENST00000693763.1:n.1823T>A
ENST00000245407.8:c.663T>A MANE Select ENSP00000245407.3:p.Ile221=
ENST00000245407.7:c.663T>A ENSP00000245407.3:p.Ile221=
ENST00000415928.5:c.432T>A ENSP00000388838.1:p.Ile144=
ENST00000435065.6:c.735T>A ENSP00000402760.2:p.Ile245=
ENST00000437841.6:c.404T>A ENSP00000400553.1:p.Phe135Tyr
ENST00000448810.5:c.11T>A
ENST00000461013.5:n.8085T>A
NM_001308122.1:c.735T>A NP_001295051.1:p.Ile245=
NM_003060.3:c.663T>A NP_003051.1:p.Ile221=
XM_011543590.1:c.45T>A XP_011541892.1:p.Ile15=
XR_427718.1:n.1023T>A
XR_948290.1:n.1004T>A
XR_948291.1:n.1017T>A
XM_011543590.2:c.45T>A XP_011541892.1:p.Ile15=
XM_017009778.2:c.135T>A XP_016865267.1:p.Ile45=
XR_001742215.1:n.1004T>A
XR_001742216.1:n.1023T>A
XR_427718.2:n.1023T>A
XR_948290.2:n.1004T>A
XR_948291.2:n.1017T>A
NM_003060.4:c.663T>A MANE Select NP_003051.1:p.Ile221=
NM_001308122.2:c.735T>A NP_001295051.1:p.Ile245=