Canonical Allele Identifier: CA360809907
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-422T>G ENSP00000388838.2:n.1292-422T>G
ENST00000435065.7:c.1610T>G ENSP00000402760.2:p.Phe537Cys
ENST00000448810.6:c.*390T>G ENSP00000401860.2:n.*390T>G
ENST00000685543.1:n.1679T>G
ENST00000686757.1:c.*702T>G ENSP00000510721.1:n.*702T>G
ENST00000686868.1:n.530T>G
ENST00000687740.1:n.4223T>G
ENST00000688151.1:n.2848T>G
ENST00000689271.1:c.1385T>G ENSP00000510797.1:p.Phe462Cys
ENST00000690900.1:c.*702T>G ENSP00000510703.1:n.*702T>G
ENST00000692212.1:n.4678T>G
ENST00000692355.1:c.791T>G
ENST00000692413.1:c.1520T>G ENSP00000509374.1:p.Phe507Cys
ENST00000692825.1:c.1606T>G ENSP00000509447.1:n.1606T>G
ENST00000693308.1:c.1586T>G ENSP00000509770.1:p.Phe529Cys
ENST00000693763.1:n.2698T>G
ENST00000245407.8:c.1538T>G MANE Select ENSP00000245407.3:p.Phe513Cys
ENST00000245407.7:c.1538T>G ENSP00000245407.3:p.Phe513Cys
ENST00000435065.6:c.1610T>G ENSP00000402760.2:p.Phe537Cys
ENST00000447841.5:c.382T>G
ENST00000448810.5:c.800T>G
ENST00000461013.5:n.8960T>G
ENST00000475308.1:n.2216T>G
NM_001308122.1:c.1610T>G NP_001295051.1:p.Phe537Cys
NM_003060.3:c.1538T>G NP_003051.1:p.Phe513Cys
XM_011543590.1:c.920T>G XP_011541892.1:p.Phe307Cys
XR_948290.1:n.1664T>G
XM_011543590.2:c.920T>G XP_011541892.1:p.Phe307Cys
XM_017009778.2:c.1010T>G XP_016865267.1:p.Phe337Cys
XR_001742215.1:n.1793T>G
XR_001742216.1:n.1812T>G
XR_427718.2:n.1898T>G
XR_948290.2:n.1664T>G
XR_948291.2:n.1892T>G
NM_003060.4:c.1538T>G MANE Select NP_003051.1:p.Phe513Cys
NM_001308122.2:c.1610T>G NP_001295051.1:p.Phe537Cys