Canonical Allele Identifier: CA446340045
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131726574C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390882C>G , CM000667.2:g.132390882C>G GRCh38
NC_000005.9:g.131726574C>G , CM000667.1:g.131726574C>G GRCh37
NC_000005.8:g.131754473C>G NCBI36
NG_008982.1:g.26174C>G
NG_008982.2:g.26179C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1086C>G ENSP00000388838.2:p.Leu362=
ENST00000435065.7:c.1317C>G ENSP00000402760.2:p.Leu439=
ENST00000448810.6:c.*97C>G ENSP00000401860.2:n.*97C>G
ENST00000685543.1:n.1386C>G
ENST00000686757.1:c.*409C>G ENSP00000510721.1:n.*409C>G
ENST00000687740.1:n.3930C>G
ENST00000688151.1:n.2555C>G
ENST00000689271.1:c.1092C>G ENSP00000510797.1:p.Leu364=
ENST00000690900.1:c.*409C>G ENSP00000510703.1:n.*409C>G
ENST00000692212.1:n.2857C>G
ENST00000692355.1:c.498C>G
ENST00000692413.1:c.1227C>G ENSP00000509374.1:p.Leu409=
ENST00000692825.1:c.1313C>G ENSP00000509447.1:n.1313C>G
ENST00000693308.1:c.1293C>G ENSP00000509770.1:p.Leu431=
ENST00000693763.1:n.2405C>G
ENST00000245407.8:c.1245C>G MANE Select ENSP00000245407.3:p.Leu415=
ENST00000245407.7:c.1245C>G ENSP00000245407.3:p.Leu415=
ENST00000435065.6:c.1317C>G ENSP00000402760.2:p.Leu439=
ENST00000447841.5:c.112-1551C>G
ENST00000448810.5:c.507C>G
ENST00000461013.5:n.8667C>G
ENST00000475308.1:n.1923C>G
ENST00000479605.5:n.348C>G
NM_001308122.1:c.1317C>G NP_001295051.1:p.Leu439=
NM_003060.3:c.1245C>G NP_003051.1:p.Leu415=
XM_011543590.1:c.627C>G XP_011541892.1:p.Leu209=
XR_427718.1:n.1605C>G
XR_948290.1:n.1394-1551C>G
XR_948291.1:n.1599C>G
XM_011543590.2:c.627C>G XP_011541892.1:p.Leu209=
XM_017009778.2:c.717C>G XP_016865267.1:p.Leu239=
XR_001742215.1:n.1500C>G
XR_001742216.1:n.1519C>G
XR_427718.2:n.1605C>G
XR_948290.2:n.1394-1551C>G
XR_948291.2:n.1599C>G
NM_003060.4:c.1245C>G MANE Select NP_003051.1:p.Leu415=
NM_001308122.2:c.1317C>G NP_001295051.1:p.Leu439=