Canonical Allele Identifier: CA446345990
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729414C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393722C>T , CM000667.2:g.132393722C>T GRCh38
NC_000005.9:g.131729414C>T , CM000667.1:g.131729414C>T GRCh37
NC_000005.8:g.131757313C>T NCBI36
NG_008982.1:g.29014C>T
NG_008982.2:g.29019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-463C>T ENSP00000388838.2:n.1292-463C>T
ENST00000435065.7:c.1569C>T ENSP00000402760.2:p.Thr523=
ENST00000448810.6:c.*349C>T ENSP00000401860.2:n.*349C>T
ENST00000685543.1:n.1638C>T
ENST00000686757.1:c.*661C>T ENSP00000510721.1:n.*661C>T
ENST00000686868.1:n.489C>T
ENST00000687740.1:n.4182C>T
ENST00000688151.1:n.2807C>T
ENST00000689271.1:c.1344C>T ENSP00000510797.1:p.Thr448=
ENST00000690900.1:c.*661C>T ENSP00000510703.1:n.*661C>T
ENST00000692212.1:n.4637C>T
ENST00000692355.1:c.750C>T
ENST00000692413.1:c.1479C>T ENSP00000509374.1:p.Thr493=
ENST00000692825.1:c.1565C>T ENSP00000509447.1:n.1565C>T
ENST00000693308.1:c.1545C>T ENSP00000509770.1:p.Thr515=
ENST00000693763.1:n.2657C>T
ENST00000245407.8:c.1497C>T MANE Select ENSP00000245407.3:p.Thr499=
ENST00000245407.7:c.1497C>T ENSP00000245407.3:p.Thr499=
ENST00000435065.6:c.1569C>T ENSP00000402760.2:p.Thr523=
ENST00000447841.5:c.341C>T
ENST00000448810.5:c.759C>T
ENST00000461013.5:n.8919C>T
ENST00000475308.1:n.2175C>T
NM_001308122.1:c.1569C>T NP_001295051.1:p.Thr523=
NM_003060.3:c.1497C>T NP_003051.1:p.Thr499=
XM_011543590.1:c.879C>T XP_011541892.1:p.Thr293=
XR_948290.1:n.1623C>T
XM_011543590.2:c.879C>T XP_011541892.1:p.Thr293=
XM_017009778.2:c.969C>T XP_016865267.1:p.Thr323=
XR_001742215.1:n.1752C>T
XR_001742216.1:n.1771C>T
XR_427718.2:n.1857C>T
XR_948290.2:n.1623C>T
XR_948291.2:n.1851C>T
NM_003060.4:c.1497C>T MANE Select NP_003051.1:p.Thr499=
NM_001308122.2:c.1569C>T NP_001295051.1:p.Thr523=