Canonical Allele Identifier: CA446346523
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729462C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393770C>A , CM000667.2:g.132393770C>A GRCh38
NC_000005.9:g.131729462C>A , CM000667.1:g.131729462C>A GRCh37
NC_000005.8:g.131757361C>A NCBI36
NG_008982.1:g.29062C>A
NG_008982.2:g.29067C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-415C>A ENSP00000388838.2:n.1292-415C>A
ENST00000435065.7:c.1617C>A ENSP00000402760.2:p.Thr539=
ENST00000448810.6:c.*397C>A ENSP00000401860.2:n.*397C>A
ENST00000685543.1:n.1686C>A
ENST00000686757.1:c.*709C>A ENSP00000510721.1:n.*709C>A
ENST00000686868.1:n.537C>A
ENST00000687740.1:n.4230C>A
ENST00000688151.1:n.2855C>A
ENST00000689271.1:c.1392C>A ENSP00000510797.1:p.Thr464=
ENST00000690900.1:c.*709C>A ENSP00000510703.1:n.*709C>A
ENST00000692212.1:n.4685C>A
ENST00000692355.1:c.798C>A
ENST00000692413.1:c.1527C>A ENSP00000509374.1:p.Thr509=
ENST00000692825.1:c.1613C>A ENSP00000509447.1:n.1613C>A
ENST00000693308.1:c.1593C>A ENSP00000509770.1:p.Thr531=
ENST00000693763.1:n.2705C>A
ENST00000245407.8:c.1545C>A MANE Select ENSP00000245407.3:p.Thr515=
ENST00000245407.7:c.1545C>A ENSP00000245407.3:p.Thr515=
ENST00000435065.6:c.1617C>A ENSP00000402760.2:p.Thr539=
ENST00000447841.5:c.389C>A
ENST00000448810.5:c.807C>A
ENST00000461013.5:n.8967C>A
ENST00000475308.1:n.2223C>A
NM_001308122.1:c.1617C>A NP_001295051.1:p.Thr539=
NM_003060.3:c.1545C>A NP_003051.1:p.Thr515=
XM_011543590.1:c.927C>A XP_011541892.1:p.Thr309=
XR_948290.1:n.1671C>A
XM_011543590.2:c.927C>A XP_011541892.1:p.Thr309=
XM_017009778.2:c.1017C>A XP_016865267.1:p.Thr339=
XR_001742215.1:n.1800C>A
XR_001742216.1:n.1819C>A
XR_427718.2:n.1905C>A
XR_948290.2:n.1671C>A
XR_948291.2:n.1899C>A
NM_003060.4:c.1545C>A MANE Select NP_003051.1:p.Thr515=
NM_001308122.2:c.1617C>A NP_001295051.1:p.Thr539=