Canonical Allele Identifier: CA360809737
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393711G>T , CM000667.2:g.132393711G>T GRCh38
NC_000005.9:g.131729403G>T , CM000667.1:g.131729403G>T GRCh37
NC_000005.8:g.131757302G>T NCBI36
NG_008982.1:g.29003G>T
NG_008982.2:g.29008G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1292-474G>T ENSP00000388838.2:n.1292-474G>T
ENST00000435065.7:c.1558G>T ENSP00000402760.2:p.Gly520Ter
ENST00000448810.6:c.*338G>T ENSP00000401860.2:n.*338G>T
ENST00000685543.1:n.1627G>T
ENST00000686757.1:c.*650G>T ENSP00000510721.1:n.*650G>T
ENST00000686868.1:n.478G>T
ENST00000687740.1:n.4171G>T
ENST00000688151.1:n.2796G>T
ENST00000689271.1:c.1333G>T ENSP00000510797.1:p.Gly445Ter
ENST00000690900.1:c.*650G>T ENSP00000510703.1:n.*650G>T
ENST00000692212.1:n.4626G>T
ENST00000692355.1:c.739G>T
ENST00000692413.1:c.1468G>T ENSP00000509374.1:p.Gly490Ter
ENST00000692825.1:c.1554G>T ENSP00000509447.1:n.1554G>T
ENST00000693308.1:c.1534G>T ENSP00000509770.1:p.Gly512Ter
ENST00000693763.1:n.2646G>T
ENST00000245407.8:c.1486G>T MANE Select ENSP00000245407.3:p.Gly496Ter
ENST00000245407.7:c.1486G>T ENSP00000245407.3:p.Gly496Ter
ENST00000435065.6:c.1558G>T ENSP00000402760.2:p.Gly520Ter
ENST00000447841.5:c.330G>T
ENST00000448810.5:c.748G>T
ENST00000461013.5:n.8908G>T
ENST00000475308.1:n.2164G>T
NM_001308122.1:c.1558G>T NP_001295051.1:p.Gly520Ter
NM_003060.3:c.1486G>T NP_003051.1:p.Gly496Ter
XM_011543590.1:c.868G>T XP_011541892.1:p.Gly290Ter
XR_948290.1:n.1612G>T
XM_011543590.2:c.868G>T XP_011541892.1:p.Gly290Ter
XM_017009778.2:c.958G>T XP_016865267.1:p.Gly320Ter
XR_001742215.1:n.1741G>T
XR_001742216.1:n.1760G>T
XR_427718.2:n.1846G>T
XR_948290.2:n.1612G>T
XR_948291.2:n.1840G>T
NM_003060.4:c.1486G>T MANE Select NP_003051.1:p.Gly496Ter
NM_001308122.2:c.1558G>T NP_001295051.1:p.Gly520Ter