Canonical Allele Identifier: CA360809981
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393784C>T , CM000667.2:g.132393784C>T GRCh38
NC_000005.9:g.131729476C>T , CM000667.1:g.131729476C>T GRCh37
NC_000005.8:g.131757375C>T NCBI36
NG_008982.1:g.29076C>T
NG_008982.2:g.29081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-401C>T ENSP00000388838.2:n.1292-401C>T
ENST00000435065.7:c.1631C>T ENSP00000402760.2:p.Thr544Ile
ENST00000448810.6:c.*411C>T ENSP00000401860.2:n.*411C>T
ENST00000685543.1:n.1700C>T
ENST00000686757.1:c.*723C>T ENSP00000510721.1:n.*723C>T
ENST00000686868.1:n.551C>T
ENST00000687740.1:n.4244C>T
ENST00000688151.1:n.2869C>T
ENST00000689271.1:c.1406C>T ENSP00000510797.1:p.Thr469Ile
ENST00000690900.1:c.*723C>T ENSP00000510703.1:n.*723C>T
ENST00000692212.1:n.4699C>T
ENST00000692355.1:c.812C>T
ENST00000692413.1:c.1541C>T ENSP00000509374.1:p.Thr514Ile
ENST00000692825.1:c.1627C>T ENSP00000509447.1:n.1627C>T
ENST00000693308.1:c.1607C>T ENSP00000509770.1:p.Thr536Ile
ENST00000693763.1:n.2719C>T
ENST00000245407.8:c.1559C>T MANE Select ENSP00000245407.3:p.Thr520Ile
ENST00000245407.7:c.1559C>T ENSP00000245407.3:p.Thr520Ile
ENST00000435065.6:c.1631C>T ENSP00000402760.2:p.Thr544Ile
ENST00000447841.5:c.403C>T
ENST00000448810.5:c.821C>T
ENST00000461013.5:n.8981C>T
ENST00000475308.1:n.2237C>T
NM_001308122.1:c.1631C>T NP_001295051.1:p.Thr544Ile
NM_003060.3:c.1559C>T NP_003051.1:p.Thr520Ile
XM_011543590.1:c.941C>T XP_011541892.1:p.Thr314Ile
XR_948290.1:n.1685C>T
XM_011543590.2:c.941C>T XP_011541892.1:p.Thr314Ile
XM_017009778.2:c.1031C>T XP_016865267.1:p.Thr344Ile
XR_001742215.1:n.1814C>T
XR_001742216.1:n.1833C>T
XR_427718.2:n.1919C>T
XR_948290.2:n.1685C>T
XR_948291.2:n.1913C>T
NM_003060.4:c.1559C>T MANE Select NP_003051.1:p.Thr520Ile
NM_001308122.2:c.1631C>T NP_001295051.1:p.Thr544Ile