Canonical Allele Identifier: CA3403917
Gene: SLC22A5 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132384172G>A , CM000667.2:g.132384172G>A GRCh38
NC_000005.9:g.131719864G>A , CM000667.1:g.131719864G>A GRCh37
NC_000005.8:g.131747763G>A NCBI36
NG_008982.1:g.19464G>A
NG_008982.2:g.19469G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.523G>A ENSP00000388838.2:p.Val175Met
ENST00000435065.7:c.595G>A ENSP00000402760.2:p.Val199Met
ENST00000448810.6:c.523G>A ENSP00000401860.2:p.Val175Met
ENST00000686757.1:c.523G>A ENSP00000510721.1:p.Val175Met
ENST00000687740.1:n.657G>A
ENST00000688151.1:n.1702G>A
ENST00000689271.1:c.523G>A ENSP00000510797.1:p.Val175Met
ENST00000690900.1:c.523G>A ENSP00000510703.1:p.Val175Met
ENST00000692355.1:c.75G>A
ENST00000692413.1:c.523G>A ENSP00000509374.1:p.Val175Met
ENST00000692825.1:c.591G>A ENSP00000509447.1:n.591G>A
ENST00000693308.1:c.523G>A ENSP00000509770.1:p.Val175Met
ENST00000693763.1:n.657G>A
ENST00000245407.8:c.523G>A MANE Select ENSP00000245407.3:p.Val175Met
ENST00000245407.7:c.523G>A ENSP00000245407.3:p.Val175Met
ENST00000415928.5:c.292G>A ENSP00000388838.1:p.Val98Met
ENST00000435065.6:c.595G>A ENSP00000402760.2:p.Val199Met
ENST00000437841.6:c.394-1156G>A ENSP00000400553.1:n.394-1156G>A
ENST00000461013.5:n.7945G>A
NM_001308122.1:c.595G>A NP_001295051.1:p.Val199Met
NM_003060.3:c.523G>A NP_003051.1:p.Val175Met
XR_427718.1:n.864G>A
XR_948290.1:n.864G>A
XR_948291.1:n.864G>A
XM_011543590.2:c.-109G>A XP_011541892.1:n.-109G>A
XM_017009778.2:c.-6G>A XP_016865267.1:n.-6G>A
XR_001742215.1:n.864G>A
XR_001742216.1:n.864G>A
XR_427718.2:n.864G>A
XR_948290.2:n.864G>A
XR_948291.2:n.864G>A
NM_003060.4:c.523G>A MANE Select NP_003051.1:p.Val175Met
NM_001308122.2:c.595G>A NP_001295051.1:p.Val199Met