Canonical Allele Identifier: CA446345743
Gene: SLC22A5 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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