Canonical Allele Identifier: CA360810075
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393810G>T , CM000667.2:g.132393810G>T GRCh38
NC_000005.9:g.131729502G>T , CM000667.1:g.131729502G>T GRCh37
NC_000005.8:g.131757401G>T NCBI36
NG_008982.1:g.29102G>T
NG_008982.2:g.29107G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-375G>T ENSP00000388838.2:n.1292-375G>T
ENST00000435065.7:c.1657G>T ENSP00000402760.2:p.Gly553Ter
ENST00000448810.6:c.*437G>T ENSP00000401860.2:n.*437G>T
ENST00000685543.1:n.1726G>T
ENST00000686757.1:c.*749G>T ENSP00000510721.1:n.*749G>T
ENST00000686868.1:n.577G>T
ENST00000687740.1:n.4270G>T
ENST00000688151.1:n.2895G>T
ENST00000689271.1:c.1432G>T ENSP00000510797.1:p.Gly478Ter
ENST00000690900.1:c.*749G>T ENSP00000510703.1:n.*749G>T
ENST00000692212.1:n.4725G>T
ENST00000692355.1:c.838G>T
ENST00000692413.1:c.1567G>T ENSP00000509374.1:p.Gly523Ter
ENST00000692825.1:c.1653G>T ENSP00000509447.1:n.1653G>T
ENST00000693308.1:c.1633G>T ENSP00000509770.1:p.Gly545Ter
ENST00000693763.1:n.2745G>T
ENST00000245407.8:c.1585G>T MANE Select ENSP00000245407.3:p.Gly529Ter
ENST00000245407.7:c.1585G>T ENSP00000245407.3:p.Gly529Ter
ENST00000435065.6:c.1657G>T ENSP00000402760.2:p.Gly553Ter
ENST00000447841.5:c.429G>T
ENST00000448810.5:c.847G>T
ENST00000461013.5:n.9007G>T
ENST00000475308.1:n.2263G>T
NM_001308122.1:c.1657G>T NP_001295051.1:p.Gly553Ter
NM_003060.3:c.1585G>T NP_003051.1:p.Gly529Ter
XM_011543590.1:c.967G>T XP_011541892.1:p.Gly323Ter
XR_948290.1:n.1711G>T
XM_011543590.2:c.967G>T XP_011541892.1:p.Gly323Ter
XM_017009778.2:c.1057G>T XP_016865267.1:p.Gly353Ter
XR_001742215.1:n.1840G>T
XR_001742216.1:n.1859G>T
XR_427718.2:n.1945G>T
XR_948290.2:n.1711G>T
XR_948291.2:n.1939G>T
NM_003060.4:c.1585G>T MANE Select NP_003051.1:p.Gly529Ter
NM_001308122.2:c.1657G>T NP_001295051.1:p.Gly553Ter