Canonical Allele Identifier: CA360805655
Gene: SLC22A5 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387102C>G , CM000667.2:g.132387102C>G GRCh38
NC_000005.9:g.131722794C>G , CM000667.1:g.131722794C>G GRCh37
NC_000005.8:g.131750693C>G NCBI36
NG_008982.1:g.22394C>G
NG_008982.2:g.22399C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.743C>G ENSP00000388838.2:p.Ala248Gly
ENST00000435065.7:c.974C>G ENSP00000402760.2:p.Ala325Gly
ENST00000448810.6:c.902C>G ENSP00000401860.2:p.Ala301Gly
ENST00000686757.1:c.*66C>G ENSP00000510721.1:n.*66C>G
ENST00000687740.1:n.3587C>G
ENST00000688151.1:n.2212C>G
ENST00000689271.1:c.749C>G ENSP00000510797.1:p.Ala250Gly
ENST00000690900.1:c.*66C>G ENSP00000510703.1:n.*66C>G
ENST00000692212.1:n.846C>G
ENST00000692355.1:c.205-1819C>G
ENST00000692413.1:c.884C>G ENSP00000509374.1:p.Ala295Gly
ENST00000692825.1:c.970C>G ENSP00000509447.1:n.970C>G
ENST00000693308.1:c.950C>G ENSP00000509770.1:p.Ala317Gly
ENST00000693763.1:n.2062C>G
ENST00000245407.8:c.902C>G MANE Select ENSP00000245407.3:p.Ala301Gly
ENST00000245407.7:c.902C>G ENSP00000245407.3:p.Ala301Gly
ENST00000415928.5:c.671C>G ENSP00000388838.1:p.Ala224Gly
ENST00000435065.6:c.974C>G ENSP00000402760.2:p.Ala325Gly
ENST00000437841.6:c.*217C>G ENSP00000400553.1:n.*217C>G
ENST00000448810.5:c.250C>G
ENST00000461013.5:n.8324C>G
NM_001308122.1:c.974C>G NP_001295051.1:p.Ala325Gly
NM_003060.3:c.902C>G NP_003051.1:p.Ala301Gly
XM_011543590.1:c.284C>G XP_011541892.1:p.Ala95Gly
XR_427718.1:n.1262C>G
XR_948290.1:n.1243C>G
XR_948291.1:n.1256C>G
XM_011543590.2:c.284C>G XP_011541892.1:p.Ala95Gly
XM_017009778.2:c.374C>G XP_016865267.1:p.Ala125Gly
XR_001742215.1:n.1243C>G
XR_001742216.1:n.1262C>G
XR_427718.2:n.1262C>G
XR_948290.2:n.1243C>G
XR_948291.2:n.1256C>G
NM_003060.4:c.902C>G MANE Select NP_003051.1:p.Ala301Gly
NM_001308122.2:c.974C>G NP_001295051.1:p.Ala325Gly