Canonical Allele Identifier: CA360809802
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393732G>T , CM000667.2:g.132393732G>T GRCh38
NC_000005.9:g.131729424G>T , CM000667.1:g.131729424G>T GRCh37
NC_000005.8:g.131757323G>T NCBI36
NG_008982.1:g.29024G>T
NG_008982.2:g.29029G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-453G>T ENSP00000388838.2:n.1292-453G>T
ENST00000435065.7:c.1579G>T ENSP00000402760.2:p.Ala527Ser
ENST00000448810.6:c.*359G>T ENSP00000401860.2:n.*359G>T
ENST00000685543.1:n.1648G>T
ENST00000686757.1:c.*671G>T ENSP00000510721.1:n.*671G>T
ENST00000686868.1:n.499G>T
ENST00000687740.1:n.4192G>T
ENST00000688151.1:n.2817G>T
ENST00000689271.1:c.1354G>T ENSP00000510797.1:p.Ala452Ser
ENST00000690900.1:c.*671G>T ENSP00000510703.1:n.*671G>T
ENST00000692212.1:n.4647G>T
ENST00000692355.1:c.760G>T
ENST00000692413.1:c.1489G>T ENSP00000509374.1:p.Ala497Ser
ENST00000692825.1:c.1575G>T ENSP00000509447.1:n.1575G>T
ENST00000693308.1:c.1555G>T ENSP00000509770.1:p.Ala519Ser
ENST00000693763.1:n.2667G>T
ENST00000245407.8:c.1507G>T MANE Select ENSP00000245407.3:p.Ala503Ser
ENST00000245407.7:c.1507G>T ENSP00000245407.3:p.Ala503Ser
ENST00000435065.6:c.1579G>T ENSP00000402760.2:p.Ala527Ser
ENST00000447841.5:c.351G>T
ENST00000448810.5:c.769G>T
ENST00000461013.5:n.8929G>T
ENST00000475308.1:n.2185G>T
NM_001308122.1:c.1579G>T NP_001295051.1:p.Ala527Ser
NM_003060.3:c.1507G>T NP_003051.1:p.Ala503Ser
XM_011543590.1:c.889G>T XP_011541892.1:p.Ala297Ser
XR_948290.1:n.1633G>T
XM_011543590.2:c.889G>T XP_011541892.1:p.Ala297Ser
XM_017009778.2:c.979G>T XP_016865267.1:p.Ala327Ser
XR_001742215.1:n.1762G>T
XR_001742216.1:n.1781G>T
XR_427718.2:n.1867G>T
XR_948290.2:n.1633G>T
XR_948291.2:n.1861G>T
NM_003060.4:c.1507G>T MANE Select NP_003051.1:p.Ala503Ser
NM_001308122.2:c.1579G>T NP_001295051.1:p.Ala527Ser