Canonical Allele Identifier: CA446345737
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729396T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393704T>A , CM000667.2:g.132393704T>A GRCh38
NC_000005.9:g.131729396T>A , CM000667.1:g.131729396T>A GRCh37
NC_000005.8:g.131757295T>A NCBI36
NG_008982.1:g.28996T>A
NG_008982.2:g.29001T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-481T>A ENSP00000388838.2:n.1292-481T>A
ENST00000435065.7:c.1551T>A ENSP00000402760.2:p.Ile517=
ENST00000448810.6:c.*331T>A ENSP00000401860.2:n.*331T>A
ENST00000685543.1:n.1620T>A
ENST00000686757.1:c.*643T>A ENSP00000510721.1:n.*643T>A
ENST00000686868.1:n.471T>A
ENST00000687740.1:n.4164T>A
ENST00000688151.1:n.2789T>A
ENST00000689271.1:c.1326T>A ENSP00000510797.1:p.Ile442=
ENST00000690900.1:c.*643T>A ENSP00000510703.1:n.*643T>A
ENST00000692212.1:n.4619T>A
ENST00000692355.1:c.732T>A
ENST00000692413.1:c.1461T>A ENSP00000509374.1:p.Ile487=
ENST00000692825.1:c.1547T>A ENSP00000509447.1:n.1547T>A
ENST00000693308.1:c.1527T>A ENSP00000509770.1:p.Ile509=
ENST00000693763.1:n.2639T>A
ENST00000245407.8:c.1479T>A MANE Select ENSP00000245407.3:p.Ile493=
ENST00000245407.7:c.1479T>A ENSP00000245407.3:p.Ile493=
ENST00000435065.6:c.1551T>A ENSP00000402760.2:p.Ile517=
ENST00000447841.5:c.323T>A
ENST00000448810.5:c.741T>A
ENST00000461013.5:n.8901T>A
ENST00000475308.1:n.2157T>A
NM_001308122.1:c.1551T>A NP_001295051.1:p.Ile517=
NM_003060.3:c.1479T>A NP_003051.1:p.Ile493=
XM_011543590.1:c.861T>A XP_011541892.1:p.Ile287=
XR_948290.1:n.1605T>A
XM_011543590.2:c.861T>A XP_011541892.1:p.Ile287=
XM_017009778.2:c.951T>A XP_016865267.1:p.Ile317=
XR_001742215.1:n.1734T>A
XR_001742216.1:n.1753T>A
XR_427718.2:n.1839T>A
XR_948290.2:n.1605T>A
XR_948291.2:n.1833T>A
NM_003060.4:c.1479T>A MANE Select NP_003051.1:p.Ile493=
NM_001308122.2:c.1551T>A NP_001295051.1:p.Ile517=