Canonical Allele Identifier: CA360809930
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393769C>G , CM000667.2:g.132393769C>G GRCh38
NC_000005.9:g.131729461C>G , CM000667.1:g.131729461C>G GRCh37
NC_000005.8:g.131757360C>G NCBI36
NG_008982.1:g.29061C>G
NG_008982.2:g.29066C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-416C>G ENSP00000388838.2:n.1292-416C>G
ENST00000435065.7:c.1616C>G ENSP00000402760.2:p.Thr539Ser
ENST00000448810.6:c.*396C>G ENSP00000401860.2:n.*396C>G
ENST00000685543.1:n.1685C>G
ENST00000686757.1:c.*708C>G ENSP00000510721.1:n.*708C>G
ENST00000686868.1:n.536C>G
ENST00000687740.1:n.4229C>G
ENST00000688151.1:n.2854C>G
ENST00000689271.1:c.1391C>G ENSP00000510797.1:p.Thr464Ser
ENST00000690900.1:c.*708C>G ENSP00000510703.1:n.*708C>G
ENST00000692212.1:n.4684C>G
ENST00000692355.1:c.797C>G
ENST00000692413.1:c.1526C>G ENSP00000509374.1:p.Thr509Ser
ENST00000692825.1:c.1612C>G ENSP00000509447.1:n.1612C>G
ENST00000693308.1:c.1592C>G ENSP00000509770.1:p.Thr531Ser
ENST00000693763.1:n.2704C>G
ENST00000245407.8:c.1544C>G MANE Select ENSP00000245407.3:p.Thr515Ser
ENST00000245407.7:c.1544C>G ENSP00000245407.3:p.Thr515Ser
ENST00000435065.6:c.1616C>G ENSP00000402760.2:p.Thr539Ser
ENST00000447841.5:c.388C>G
ENST00000448810.5:c.806C>G
ENST00000461013.5:n.8966C>G
ENST00000475308.1:n.2222C>G
NM_001308122.1:c.1616C>G NP_001295051.1:p.Thr539Ser
NM_003060.3:c.1544C>G NP_003051.1:p.Thr515Ser
XM_011543590.1:c.926C>G XP_011541892.1:p.Thr309Ser
XR_948290.1:n.1670C>G
XM_011543590.2:c.926C>G XP_011541892.1:p.Thr309Ser
XM_017009778.2:c.1016C>G XP_016865267.1:p.Thr339Ser
XR_001742215.1:n.1799C>G
XR_001742216.1:n.1818C>G
XR_427718.2:n.1904C>G
XR_948290.2:n.1670C>G
XR_948291.2:n.1898C>G
NM_003060.4:c.1544C>G MANE Select NP_003051.1:p.Thr515Ser
NM_001308122.2:c.1616C>G NP_001295051.1:p.Thr539Ser