Canonical Allele Identifier: CA446332831
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131722750T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387058T>G , CM000667.2:g.132387058T>G GRCh38
NC_000005.9:g.131722750T>G , CM000667.1:g.131722750T>G GRCh37
NC_000005.8:g.131750649T>G NCBI36
NG_008982.1:g.22350T>G
NG_008982.2:g.22355T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.699T>G ENSP00000388838.2:p.Ser233=
ENST00000435065.7:c.930T>G ENSP00000402760.2:p.Ser310=
ENST00000448810.6:c.858T>G ENSP00000401860.2:p.Ser286=
ENST00000686757.1:c.*22T>G ENSP00000510721.1:n.*22T>G
ENST00000687740.1:n.3543T>G
ENST00000688151.1:n.2168T>G
ENST00000689271.1:c.705T>G ENSP00000510797.1:p.Ser235=
ENST00000690900.1:c.*22T>G ENSP00000510703.1:n.*22T>G
ENST00000692212.1:n.802T>G
ENST00000692355.1:c.205-1863T>G
ENST00000692413.1:c.844-4T>G ENSP00000509374.1:n.844-4T>G
ENST00000692825.1:c.926T>G ENSP00000509447.1:n.926T>G
ENST00000693308.1:c.906T>G ENSP00000509770.1:p.Ser302=
ENST00000693763.1:n.2018T>G
ENST00000245407.8:c.858T>G MANE Select ENSP00000245407.3:p.Ser286=
ENST00000245407.7:c.858T>G ENSP00000245407.3:p.Ser286=
ENST00000415928.5:c.627T>G ENSP00000388838.1:p.Ser209=
ENST00000435065.6:c.930T>G ENSP00000402760.2:p.Ser310=
ENST00000437841.6:c.*173T>G ENSP00000400553.1:n.*173T>G
ENST00000448810.5:c.206T>G
ENST00000461013.5:n.8280T>G
NM_001308122.1:c.930T>G NP_001295051.1:p.Ser310=
NM_003060.3:c.858T>G NP_003051.1:p.Ser286=
XM_011543590.1:c.240T>G XP_011541892.1:p.Ser80=
XR_427718.1:n.1218T>G
XR_948290.1:n.1199T>G
XR_948291.1:n.1212T>G
XM_011543590.2:c.240T>G XP_011541892.1:p.Ser80=
XM_017009778.2:c.330T>G XP_016865267.1:p.Ser110=
XR_001742215.1:n.1199T>G
XR_001742216.1:n.1218T>G
XR_427718.2:n.1218T>G
XR_948290.2:n.1199T>G
XR_948291.2:n.1212T>G
NM_003060.4:c.858T>G MANE Select NP_003051.1:p.Ser286=
NM_001308122.2:c.930T>G NP_001295051.1:p.Ser310=