Canonical Allele Identifier: CA446334925
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131724613T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132388921T>C , CM000667.2:g.132388921T>C GRCh38
NC_000005.9:g.131724613T>C , CM000667.1:g.131724613T>C GRCh37
NC_000005.8:g.131752512T>C NCBI36
NG_008982.1:g.24213T>C
NG_008982.2:g.24218T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.793T>C ENSP00000388838.2:p.Leu265=
ENST00000435065.7:c.1024T>C ENSP00000402760.2:p.Leu342=
ENST00000448810.6:c.952T>C ENSP00000401860.2:p.Leu318=
ENST00000685543.1:n.1093T>C
ENST00000686757.1:c.*116T>C ENSP00000510721.1:n.*116T>C
ENST00000687740.1:n.3637T>C
ENST00000688151.1:n.2262T>C
ENST00000689271.1:c.799T>C ENSP00000510797.1:p.Leu267=
ENST00000690900.1:c.*116T>C ENSP00000510703.1:n.*116T>C
ENST00000692212.1:n.896T>C
ENST00000692355.1:c.205T>C
ENST00000692413.1:c.934T>C ENSP00000509374.1:p.Leu312=
ENST00000692825.1:c.1020T>C ENSP00000509447.1:n.1020T>C
ENST00000693308.1:c.1000T>C ENSP00000509770.1:p.Leu334=
ENST00000693763.1:n.2112T>C
ENST00000245407.8:c.952T>C MANE Select ENSP00000245407.3:p.Leu318=
ENST00000245407.7:c.952T>C ENSP00000245407.3:p.Leu318=
ENST00000435065.6:c.1024T>C ENSP00000402760.2:p.Leu342=
ENST00000437841.6:c.*267T>C ENSP00000400553.1:n.*267T>C
ENST00000447841.5:c.11T>C
ENST00000448810.5:c.300T>C
ENST00000461013.5:n.8374T>C
ENST00000479605.5:n.55T>C
NM_001308122.1:c.1024T>C NP_001295051.1:p.Leu342=
NM_003060.3:c.952T>C NP_003051.1:p.Leu318=
XM_011543590.1:c.334T>C XP_011541892.1:p.Leu112=
XR_427718.1:n.1312T>C
XR_948290.1:n.1293T>C
XR_948291.1:n.1306T>C
XM_011543590.2:c.334T>C XP_011541892.1:p.Leu112=
XM_017009778.2:c.424T>C XP_016865267.1:p.Leu142=
XR_001742215.1:n.1293T>C
XR_001742216.1:n.1312T>C
XR_427718.2:n.1312T>C
XR_948290.2:n.1293T>C
XR_948291.2:n.1306T>C
NM_003060.4:c.952T>C MANE Select NP_003051.1:p.Leu318=
NM_001308122.2:c.1024T>C NP_001295051.1:p.Leu342=