Canonical Allele Identifier: CA360807666
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2419663
ClinVar RCV Id: RCV003115548

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390805G>A , CM000667.2:g.132390805G>A GRCh38
NC_000005.9:g.131726497G>A , CM000667.1:g.131726497G>A GRCh37
NC_000005.8:g.131754396G>A NCBI36
NG_008982.1:g.26097G>A
NG_008982.2:g.26102G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1009G>A ENSP00000388838.2:p.Ala337Thr
ENST00000435065.7:c.1240G>A ENSP00000402760.2:p.Ala414Thr
ENST00000448810.6:c.*20G>A ENSP00000401860.2:n.*20G>A
ENST00000685543.1:n.1309G>A
ENST00000686757.1:c.*332G>A ENSP00000510721.1:n.*332G>A
ENST00000687740.1:n.3853G>A
ENST00000688151.1:n.2478G>A
ENST00000689271.1:c.1015G>A ENSP00000510797.1:p.Ala339Thr
ENST00000690900.1:c.*332G>A ENSP00000510703.1:n.*332G>A
ENST00000692212.1:n.2780G>A
ENST00000692355.1:c.421G>A
ENST00000692413.1:c.1150G>A ENSP00000509374.1:p.Ala384Thr
ENST00000692825.1:c.1236G>A ENSP00000509447.1:n.1236G>A
ENST00000693308.1:c.1216G>A ENSP00000509770.1:p.Ala406Thr
ENST00000693763.1:n.2328G>A
ENST00000245407.8:c.1168G>A MANE Select ENSP00000245407.3:p.Ala390Thr
ENST00000245407.7:c.1168G>A ENSP00000245407.3:p.Ala390Thr
ENST00000435065.6:c.1240G>A ENSP00000402760.2:p.Ala414Thr
ENST00000447841.5:c.112-1628G>A
ENST00000448810.5:c.430G>A
ENST00000461013.5:n.8590G>A
ENST00000475308.1:n.1846G>A
ENST00000479605.5:n.271G>A
NM_001308122.1:c.1240G>A NP_001295051.1:p.Ala414Thr
NM_003060.3:c.1168G>A NP_003051.1:p.Ala390Thr
XM_011543590.1:c.550G>A XP_011541892.1:p.Ala184Thr
XR_427718.1:n.1528G>A
XR_948290.1:n.1394-1628G>A
XR_948291.1:n.1522G>A
XM_011543590.2:c.550G>A XP_011541892.1:p.Ala184Thr
XM_017009778.2:c.640G>A XP_016865267.1:p.Ala214Thr
XR_001742215.1:n.1423G>A
XR_001742216.1:n.1442G>A
XR_427718.2:n.1528G>A
XR_948290.2:n.1394-1628G>A
XR_948291.2:n.1522G>A
NM_003060.4:c.1168G>A MANE Select NP_003051.1:p.Ala390Thr
NM_001308122.2:c.1240G>A NP_001295051.1:p.Ala414Thr