Canonical Allele Identifier: CA16040978
Gene: SLC22A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370784
ClinVar RCV Id: RCV000411083
dbSNP Id: rs1057516765

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132378475C>G , CM000667.2:g.132378475C>G GRCh38
NC_000005.9:g.131714167C>G , CM000667.1:g.131714167C>G GRCh37
NC_000005.8:g.131742066C>G NCBI36
NG_008982.1:g.13767C>G
NG_008982.2:g.13772C>G

Transcript Alleles

HGVS Amino-acid change
NM_001308122.1:c.563C>G VV NP_001295051.1:p.Ser188Ter
NM_003060.3:c.491C>G VV NP_003051.1:p.Ser164Ter
XR_427718.1:n.832C>G
XR_948290.1:n.832C>G
XR_948291.1:n.832C>G
XM_011543590.2:c.-141C>G
XM_017009778.2:c.-31-5672C>G XP_016865267.1:p.=
XR_001742215.1:n.832C>G
XR_001742216.1:n.832C>G
XR_427718.2:n.832C>G
XR_948290.2:n.832C>G
XR_948291.2:n.832C>G
ENST00000245407.7:c.491C>G ENSP00000245407.3:p.Ser164Ter
ENST00000415928.5:n.260C>G ENSP00000388838.1:p.Ser87Ter
ENST00000435065.6:n.563C>G ENSP00000402760.2:p.Ser188Ter
ENST00000437841.6:c.394-6853C>G ENSP00000400553.1:p.=
ENST00000461013.5:n.2248C>G