Canonical Allele Identifier: CA3404144
Gene: SLC22A5 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132392542A>G , CM000667.2:g.132392542A>G GRCh38
NC_000005.9:g.131728234A>G , CM000667.1:g.131728234A>G GRCh37
NC_000005.8:g.131756133A>G NCBI36
NG_008982.1:g.27834A>G
NG_008982.2:g.27839A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1218A>G ENSP00000388838.2:p.Arg406=
ENST00000435065.7:c.1449A>G ENSP00000402760.2:p.Arg483=
ENST00000448810.6:c.*229A>G ENSP00000401860.2:n.*229A>G
ENST00000685543.1:n.1518A>G
ENST00000686757.1:c.*541A>G ENSP00000510721.1:n.*541A>G
ENST00000687740.1:n.4062A>G
ENST00000688151.1:n.2687A>G
ENST00000689271.1:c.1224A>G ENSP00000510797.1:p.Arg408=
ENST00000690900.1:c.*541A>G ENSP00000510703.1:n.*541A>G
ENST00000692212.1:n.4517A>G
ENST00000692355.1:c.630A>G
ENST00000692413.1:c.1359A>G ENSP00000509374.1:p.Arg453=
ENST00000692825.1:c.1445A>G ENSP00000509447.1:n.1445A>G
ENST00000693308.1:c.1425A>G ENSP00000509770.1:p.Arg475=
ENST00000693763.1:n.2537A>G
ENST00000245407.8:c.1377A>G MANE Select ENSP00000245407.3:p.Arg459=
ENST00000245407.7:c.1377A>G ENSP00000245407.3:p.Arg459=
ENST00000435065.6:c.1449A>G ENSP00000402760.2:p.Arg483=
ENST00000447841.5:c.221A>G
ENST00000448810.5:c.639A>G
ENST00000461013.5:n.8799A>G
ENST00000475308.1:n.2055A>G
ENST00000479605.5:n.480A>G
NM_001308122.1:c.1449A>G NP_001295051.1:p.Arg483=
NM_003060.3:c.1377A>G NP_003051.1:p.Arg459=
XM_011543590.1:c.759A>G XP_011541892.1:p.Arg253=
XR_948290.1:n.1503A>G
XM_011543590.2:c.759A>G XP_011541892.1:p.Arg253=
XM_017009778.2:c.849A>G XP_016865267.1:p.Arg283=
XR_001742215.1:n.1632A>G
XR_001742216.1:n.1651A>G
XR_427718.2:n.1737A>G
XR_948290.2:n.1503A>G
XR_948291.2:n.1731A>G
NM_003060.4:c.1377A>G MANE Select NP_003051.1:p.Arg459=
NM_001308122.2:c.1449A>G NP_001295051.1:p.Arg483=