Canonical Allele Identifier: CA360809792
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393729A>C , CM000667.2:g.132393729A>C GRCh38
NC_000005.9:g.131729421A>C , CM000667.1:g.131729421A>C GRCh37
NC_000005.8:g.131757320A>C NCBI36
NG_008982.1:g.29021A>C
NG_008982.2:g.29026A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-456A>C ENSP00000388838.2:n.1292-456A>C
ENST00000435065.7:c.1576A>C ENSP00000402760.2:p.Thr526Pro
ENST00000448810.6:c.*356A>C ENSP00000401860.2:n.*356A>C
ENST00000685543.1:n.1645A>C
ENST00000686757.1:c.*668A>C ENSP00000510721.1:n.*668A>C
ENST00000686868.1:n.496A>C
ENST00000687740.1:n.4189A>C
ENST00000688151.1:n.2814A>C
ENST00000689271.1:c.1351A>C ENSP00000510797.1:p.Thr451Pro
ENST00000690900.1:c.*668A>C ENSP00000510703.1:n.*668A>C
ENST00000692212.1:n.4644A>C
ENST00000692355.1:c.757A>C
ENST00000692413.1:c.1486A>C ENSP00000509374.1:p.Thr496Pro
ENST00000692825.1:c.1572A>C ENSP00000509447.1:n.1572A>C
ENST00000693308.1:c.1552A>C ENSP00000509770.1:p.Thr518Pro
ENST00000693763.1:n.2664A>C
ENST00000245407.8:c.1504A>C MANE Select ENSP00000245407.3:p.Thr502Pro
ENST00000245407.7:c.1504A>C ENSP00000245407.3:p.Thr502Pro
ENST00000435065.6:c.1576A>C ENSP00000402760.2:p.Thr526Pro
ENST00000447841.5:c.348A>C
ENST00000448810.5:c.766A>C
ENST00000461013.5:n.8926A>C
ENST00000475308.1:n.2182A>C
NM_001308122.1:c.1576A>C NP_001295051.1:p.Thr526Pro
NM_003060.3:c.1504A>C NP_003051.1:p.Thr502Pro
XM_011543590.1:c.886A>C XP_011541892.1:p.Thr296Pro
XR_948290.1:n.1630A>C
XM_011543590.2:c.886A>C XP_011541892.1:p.Thr296Pro
XM_017009778.2:c.976A>C XP_016865267.1:p.Thr326Pro
XR_001742215.1:n.1759A>C
XR_001742216.1:n.1778A>C
XR_427718.2:n.1864A>C
XR_948290.2:n.1630A>C
XR_948291.2:n.1858A>C
NM_003060.4:c.1504A>C MANE Select NP_003051.1:p.Thr502Pro
NM_001308122.2:c.1576A>C NP_001295051.1:p.Thr526Pro