Canonical Allele Identifier: CA360809904
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393763T>A , CM000667.2:g.132393763T>A GRCh38
NC_000005.9:g.131729455T>A , CM000667.1:g.131729455T>A GRCh37
NC_000005.8:g.131757354T>A NCBI36
NG_008982.1:g.29055T>A
NG_008982.2:g.29060T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-422T>A ENSP00000388838.2:n.1292-422T>A
ENST00000435065.7:c.1610T>A ENSP00000402760.2:p.Phe537Tyr
ENST00000448810.6:c.*390T>A ENSP00000401860.2:n.*390T>A
ENST00000685543.1:n.1679T>A
ENST00000686757.1:c.*702T>A ENSP00000510721.1:n.*702T>A
ENST00000686868.1:n.530T>A
ENST00000687740.1:n.4223T>A
ENST00000688151.1:n.2848T>A
ENST00000689271.1:c.1385T>A ENSP00000510797.1:p.Phe462Tyr
ENST00000690900.1:c.*702T>A ENSP00000510703.1:n.*702T>A
ENST00000692212.1:n.4678T>A
ENST00000692355.1:c.791T>A
ENST00000692413.1:c.1520T>A ENSP00000509374.1:p.Phe507Tyr
ENST00000692825.1:c.1606T>A ENSP00000509447.1:n.1606T>A
ENST00000693308.1:c.1586T>A ENSP00000509770.1:p.Phe529Tyr
ENST00000693763.1:n.2698T>A
ENST00000245407.8:c.1538T>A MANE Select ENSP00000245407.3:p.Phe513Tyr
ENST00000245407.7:c.1538T>A ENSP00000245407.3:p.Phe513Tyr
ENST00000435065.6:c.1610T>A ENSP00000402760.2:p.Phe537Tyr
ENST00000447841.5:c.382T>A
ENST00000448810.5:c.800T>A
ENST00000461013.5:n.8960T>A
ENST00000475308.1:n.2216T>A
NM_001308122.1:c.1610T>A NP_001295051.1:p.Phe537Tyr
NM_003060.3:c.1538T>A NP_003051.1:p.Phe513Tyr
XM_011543590.1:c.920T>A XP_011541892.1:p.Phe307Tyr
XR_948290.1:n.1664T>A
XM_011543590.2:c.920T>A XP_011541892.1:p.Phe307Tyr
XM_017009778.2:c.1010T>A XP_016865267.1:p.Phe337Tyr
XR_001742215.1:n.1793T>A
XR_001742216.1:n.1812T>A
XR_427718.2:n.1898T>A
XR_948290.2:n.1664T>A
XR_948291.2:n.1892T>A
NM_003060.4:c.1538T>A MANE Select NP_003051.1:p.Phe513Tyr
NM_001308122.2:c.1610T>A NP_001295051.1:p.Phe537Tyr