Canonical Allele Identifier: CA446345532
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729381C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393689C>T , CM000667.2:g.132393689C>T GRCh38
NC_000005.9:g.131729381C>T , CM000667.1:g.131729381C>T GRCh37
NC_000005.8:g.131757280C>T NCBI36
NG_008982.1:g.28981C>T
NG_008982.2:g.28986C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1292-496C>T ENSP00000388838.2:n.1292-496C>T
ENST00000435065.7:c.1536C>T ENSP00000402760.2:p.Arg512=
ENST00000448810.6:c.*316C>T ENSP00000401860.2:n.*316C>T
ENST00000685543.1:n.1605C>T
ENST00000686757.1:c.*628C>T ENSP00000510721.1:n.*628C>T
ENST00000686868.1:n.456C>T
ENST00000687740.1:n.4149C>T
ENST00000688151.1:n.2774C>T
ENST00000689271.1:c.1311C>T ENSP00000510797.1:p.Arg437=
ENST00000690900.1:c.*628C>T ENSP00000510703.1:n.*628C>T
ENST00000692212.1:n.4604C>T
ENST00000692355.1:c.717C>T
ENST00000692413.1:c.1446C>T ENSP00000509374.1:p.Arg482=
ENST00000692825.1:c.1532C>T ENSP00000509447.1:n.1532C>T
ENST00000693308.1:c.1512C>T ENSP00000509770.1:p.Arg504=
ENST00000693763.1:n.2624C>T
ENST00000245407.8:c.1464C>T MANE Select ENSP00000245407.3:p.Arg488=
ENST00000245407.7:c.1464C>T ENSP00000245407.3:p.Arg488=
ENST00000435065.6:c.1536C>T ENSP00000402760.2:p.Arg512=
ENST00000447841.5:c.308C>T
ENST00000448810.5:c.726C>T
ENST00000461013.5:n.8886C>T
ENST00000475308.1:n.2142C>T
NM_001308122.1:c.1536C>T NP_001295051.1:p.Arg512=
NM_003060.3:c.1464C>T NP_003051.1:p.Arg488=
XM_011543590.1:c.846C>T XP_011541892.1:p.Arg282=
XR_948290.1:n.1590C>T
XM_011543590.2:c.846C>T XP_011541892.1:p.Arg282=
XM_017009778.2:c.936C>T XP_016865267.1:p.Arg312=
XR_001742215.1:n.1719C>T
XR_001742216.1:n.1738C>T
XR_427718.2:n.1824C>T
XR_948290.2:n.1590C>T
XR_948291.2:n.1818C>T
NM_003060.4:c.1464C>T MANE Select NP_003051.1:p.Arg488=
NM_001308122.2:c.1536C>T NP_001295051.1:p.Arg512=