Canonical Allele Identifier: CA360809771
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393723A>G , CM000667.2:g.132393723A>G GRCh38
NC_000005.9:g.131729415A>G , CM000667.1:g.131729415A>G GRCh37
NC_000005.8:g.131757314A>G NCBI36
NG_008982.1:g.29015A>G
NG_008982.2:g.29020A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-462A>G ENSP00000388838.2:n.1292-462A>G
ENST00000435065.7:c.1570A>G ENSP00000402760.2:p.Ile524Val
ENST00000448810.6:c.*350A>G ENSP00000401860.2:n.*350A>G
ENST00000685543.1:n.1639A>G
ENST00000686757.1:c.*662A>G ENSP00000510721.1:n.*662A>G
ENST00000686868.1:n.490A>G
ENST00000687740.1:n.4183A>G
ENST00000688151.1:n.2808A>G
ENST00000689271.1:c.1345A>G ENSP00000510797.1:p.Ile449Val
ENST00000690900.1:c.*662A>G ENSP00000510703.1:n.*662A>G
ENST00000692212.1:n.4638A>G
ENST00000692355.1:c.751A>G
ENST00000692413.1:c.1480A>G ENSP00000509374.1:p.Ile494Val
ENST00000692825.1:c.1566A>G ENSP00000509447.1:n.1566A>G
ENST00000693308.1:c.1546A>G ENSP00000509770.1:p.Ile516Val
ENST00000693763.1:n.2658A>G
ENST00000245407.8:c.1498A>G MANE Select ENSP00000245407.3:p.Ile500Val
ENST00000245407.7:c.1498A>G ENSP00000245407.3:p.Ile500Val
ENST00000435065.6:c.1570A>G ENSP00000402760.2:p.Ile524Val
ENST00000447841.5:c.342A>G
ENST00000448810.5:c.760A>G
ENST00000461013.5:n.8920A>G
ENST00000475308.1:n.2176A>G
NM_001308122.1:c.1570A>G NP_001295051.1:p.Ile524Val
NM_003060.3:c.1498A>G NP_003051.1:p.Ile500Val
XM_011543590.1:c.880A>G XP_011541892.1:p.Ile294Val
XR_948290.1:n.1624A>G
XM_011543590.2:c.880A>G XP_011541892.1:p.Ile294Val
XM_017009778.2:c.970A>G XP_016865267.1:p.Ile324Val
XR_001742215.1:n.1753A>G
XR_001742216.1:n.1772A>G
XR_427718.2:n.1858A>G
XR_948290.2:n.1624A>G
XR_948291.2:n.1852A>G
NM_003060.4:c.1498A>G MANE Select NP_003051.1:p.Ile500Val
NM_001308122.2:c.1570A>G NP_001295051.1:p.Ile524Val