Canonical Allele Identifier: CA446346145
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729429C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393737C>A , CM000667.2:g.132393737C>A GRCh38
NC_000005.9:g.131729429C>A , CM000667.1:g.131729429C>A GRCh37
NC_000005.8:g.131757328C>A NCBI36
NG_008982.1:g.29029C>A
NG_008982.2:g.29034C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-448C>A ENSP00000388838.2:n.1292-448C>A
ENST00000435065.7:c.1584C>A ENSP00000402760.2:p.Ile528=
ENST00000448810.6:c.*364C>A ENSP00000401860.2:n.*364C>A
ENST00000685543.1:n.1653C>A
ENST00000686757.1:c.*676C>A ENSP00000510721.1:n.*676C>A
ENST00000686868.1:n.504C>A
ENST00000687740.1:n.4197C>A
ENST00000688151.1:n.2822C>A
ENST00000689271.1:c.1359C>A ENSP00000510797.1:p.Ile453=
ENST00000690900.1:c.*676C>A ENSP00000510703.1:n.*676C>A
ENST00000692212.1:n.4652C>A
ENST00000692355.1:c.765C>A
ENST00000692413.1:c.1494C>A ENSP00000509374.1:p.Ile498=
ENST00000692825.1:c.1580C>A ENSP00000509447.1:n.1580C>A
ENST00000693308.1:c.1560C>A ENSP00000509770.1:p.Ile520=
ENST00000693763.1:n.2672C>A
ENST00000245407.8:c.1512C>A MANE Select ENSP00000245407.3:p.Ile504=
ENST00000245407.7:c.1512C>A ENSP00000245407.3:p.Ile504=
ENST00000435065.6:c.1584C>A ENSP00000402760.2:p.Ile528=
ENST00000447841.5:c.356C>A
ENST00000448810.5:c.774C>A
ENST00000461013.5:n.8934C>A
ENST00000475308.1:n.2190C>A
NM_001308122.1:c.1584C>A NP_001295051.1:p.Ile528=
NM_003060.3:c.1512C>A NP_003051.1:p.Ile504=
XM_011543590.1:c.894C>A XP_011541892.1:p.Ile298=
XR_948290.1:n.1638C>A
XM_011543590.2:c.894C>A XP_011541892.1:p.Ile298=
XM_017009778.2:c.984C>A XP_016865267.1:p.Ile328=
XR_001742215.1:n.1767C>A
XR_001742216.1:n.1786C>A
XR_427718.2:n.1872C>A
XR_948290.2:n.1638C>A
XR_948291.2:n.1866C>A
NM_003060.4:c.1512C>A MANE Select NP_003051.1:p.Ile504=
NM_001308122.2:c.1584C>A NP_001295051.1:p.Ile528=