Canonical Allele Identifier: CA446330260
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721126C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385434C>T , CM000667.2:g.132385434C>T GRCh38
NC_000005.9:g.131721126C>T , CM000667.1:g.131721126C>T GRCh37
NC_000005.8:g.131749025C>T NCBI36
NG_008982.1:g.20726C>T
NG_008982.2:g.20731C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.665+1120C>T ENSP00000388838.2:n.665+1120C>T
ENST00000435065.7:c.831C>T ENSP00000402760.2:p.Ile277=
ENST00000448810.6:c.759C>T ENSP00000401860.2:p.Ile253=
ENST00000686757.1:c.778C>T ENSP00000510721.1:p.Pro260Ser
ENST00000687740.1:n.1919C>T
ENST00000688151.1:n.1951C>T
ENST00000689271.1:c.671+1114C>T ENSP00000510797.1:n.671+1114C>T
ENST00000690900.1:c.730C>T ENSP00000510703.1:p.Pro244Ser
ENST00000692212.1:n.585C>T
ENST00000692355.1:c.204+1133C>T
ENST00000692413.1:c.778C>T ENSP00000509374.1:p.Pro260Ser
ENST00000692825.1:c.827C>T ENSP00000509447.1:n.827C>T
ENST00000693308.1:c.772C>T ENSP00000509770.1:p.Pro258Ser
ENST00000693763.1:n.1919C>T
ENST00000245407.8:c.759C>T MANE Select ENSP00000245407.3:p.Ile253=
ENST00000245407.7:c.759C>T ENSP00000245407.3:p.Ile253=
ENST00000415928.5:c.528C>T ENSP00000388838.1:p.Ile176=
ENST00000435065.6:c.831C>T ENSP00000402760.2:p.Ile277=
ENST00000437841.6:c.*74C>T ENSP00000400553.1:n.*74C>T
ENST00000448810.5:c.107C>T
ENST00000461013.5:n.8181C>T
NM_001308122.1:c.831C>T NP_001295051.1:p.Ile277=
NM_003060.3:c.759C>T NP_003051.1:p.Ile253=
XM_011543590.1:c.141C>T XP_011541892.1:p.Ile47=
XR_427718.1:n.1119C>T
XR_948290.1:n.1100C>T
XR_948291.1:n.1113C>T
XM_011543590.2:c.141C>T XP_011541892.1:p.Ile47=
XM_017009778.2:c.231C>T XP_016865267.1:p.Ile77=
XR_001742215.1:n.1100C>T
XR_001742216.1:n.1119C>T
XR_427718.2:n.1119C>T
XR_948290.2:n.1100C>T
XR_948291.2:n.1113C>T
NM_003060.4:c.759C>T MANE Select NP_003051.1:p.Ile253=
NM_001308122.2:c.831C>T NP_001295051.1:p.Ile277=