Canonical Allele Identifier: CA360809894
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393760G>T , CM000667.2:g.132393760G>T GRCh38
NC_000005.9:g.131729452G>T , CM000667.1:g.131729452G>T GRCh37
NC_000005.8:g.131757351G>T NCBI36
NG_008982.1:g.29052G>T
NG_008982.2:g.29057G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-425G>T ENSP00000388838.2:n.1292-425G>T
ENST00000435065.7:c.1607G>T ENSP00000402760.2:p.Ser536Ile
ENST00000448810.6:c.*387G>T ENSP00000401860.2:n.*387G>T
ENST00000685543.1:n.1676G>T
ENST00000686757.1:c.*699G>T ENSP00000510721.1:n.*699G>T
ENST00000686868.1:n.527G>T
ENST00000687740.1:n.4220G>T
ENST00000688151.1:n.2845G>T
ENST00000689271.1:c.1382G>T ENSP00000510797.1:p.Ser461Ile
ENST00000690900.1:c.*699G>T ENSP00000510703.1:n.*699G>T
ENST00000692212.1:n.4675G>T
ENST00000692355.1:c.788G>T
ENST00000692413.1:c.1517G>T ENSP00000509374.1:p.Ser506Ile
ENST00000692825.1:c.1603G>T ENSP00000509447.1:n.1603G>T
ENST00000693308.1:c.1583G>T ENSP00000509770.1:p.Ser528Ile
ENST00000693763.1:n.2695G>T
ENST00000245407.8:c.1535G>T MANE Select ENSP00000245407.3:p.Ser512Ile
ENST00000245407.7:c.1535G>T ENSP00000245407.3:p.Ser512Ile
ENST00000435065.6:c.1607G>T ENSP00000402760.2:p.Ser536Ile
ENST00000447841.5:c.379G>T
ENST00000448810.5:c.797G>T
ENST00000461013.5:n.8957G>T
ENST00000475308.1:n.2213G>T
NM_001308122.1:c.1607G>T NP_001295051.1:p.Ser536Ile
NM_003060.3:c.1535G>T NP_003051.1:p.Ser512Ile
XM_011543590.1:c.917G>T XP_011541892.1:p.Ser306Ile
XR_948290.1:n.1661G>T
XM_011543590.2:c.917G>T XP_011541892.1:p.Ser306Ile
XM_017009778.2:c.1007G>T XP_016865267.1:p.Ser336Ile
XR_001742215.1:n.1790G>T
XR_001742216.1:n.1809G>T
XR_427718.2:n.1895G>T
XR_948290.2:n.1661G>T
XR_948291.2:n.1889G>T
NM_003060.4:c.1535G>T MANE Select NP_003051.1:p.Ser512Ile
NM_001308122.2:c.1607G>T NP_001295051.1:p.Ser536Ile