Canonical Allele Identifier: CA360807696
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390820C>G , CM000667.2:g.132390820C>G GRCh38
NC_000005.9:g.131726512C>G , CM000667.1:g.131726512C>G GRCh37
NC_000005.8:g.131754411C>G NCBI36
NG_008982.1:g.26112C>G
NG_008982.2:g.26117C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1024C>G ENSP00000388838.2:p.Gln342Glu
ENST00000435065.7:c.1255C>G ENSP00000402760.2:p.Gln419Glu
ENST00000448810.6:c.*35C>G ENSP00000401860.2:n.*35C>G
ENST00000685543.1:n.1324C>G
ENST00000686757.1:c.*347C>G ENSP00000510721.1:n.*347C>G
ENST00000687740.1:n.3868C>G
ENST00000688151.1:n.2493C>G
ENST00000689271.1:c.1030C>G ENSP00000510797.1:p.Gln344Glu
ENST00000690900.1:c.*347C>G ENSP00000510703.1:n.*347C>G
ENST00000692212.1:n.2795C>G
ENST00000692355.1:c.436C>G
ENST00000692413.1:c.1165C>G ENSP00000509374.1:p.Gln389Glu
ENST00000692825.1:c.1251C>G ENSP00000509447.1:n.1251C>G
ENST00000693308.1:c.1231C>G ENSP00000509770.1:p.Gln411Glu
ENST00000693763.1:n.2343C>G
ENST00000245407.8:c.1183C>G MANE Select ENSP00000245407.3:p.Gln395Glu
ENST00000245407.7:c.1183C>G ENSP00000245407.3:p.Gln395Glu
ENST00000435065.6:c.1255C>G ENSP00000402760.2:p.Gln419Glu
ENST00000447841.5:c.112-1613C>G
ENST00000448810.5:c.445C>G
ENST00000461013.5:n.8605C>G
ENST00000475308.1:n.1861C>G
ENST00000479605.5:n.286C>G
NM_001308122.1:c.1255C>G NP_001295051.1:p.Gln419Glu
NM_003060.3:c.1183C>G NP_003051.1:p.Gln395Glu
XM_011543590.1:c.565C>G XP_011541892.1:p.Gln189Glu
XR_427718.1:n.1543C>G
XR_948290.1:n.1394-1613C>G
XR_948291.1:n.1537C>G
XM_011543590.2:c.565C>G XP_011541892.1:p.Gln189Glu
XM_017009778.2:c.655C>G XP_016865267.1:p.Gln219Glu
XR_001742215.1:n.1438C>G
XR_001742216.1:n.1457C>G
XR_427718.2:n.1543C>G
XR_948290.2:n.1394-1613C>G
XR_948291.2:n.1537C>G
NM_003060.4:c.1183C>G MANE Select NP_003051.1:p.Gln395Glu
NM_001308122.2:c.1255C>G NP_001295051.1:p.Gln419Glu