Canonical Allele Identifier: CA16040975
Gene: SLC22A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370825
ClinVar RCV Id: RCV000409917
dbSNP Id: rs1057516797

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132370132_132370138dup , CM000667.2:g.132370132_132370138dup GRCh38
NC_000005.9:g.131705824_131705830dup , CM000667.1:g.131705824_131705830dup GRCh37
NC_000005.8:g.131733723_131733729dup NCBI36
NG_008982.1:g.5424_5430dup
NG_008982.2:g.5429_5435dup

Transcript Alleles

HGVS Amino-acid change
NM_001308122.1:c.160_166dup VV NP_001295051.1:p.Ala56GlyfsTer?
NM_003060.3:c.160_166dup VV NP_003051.1:p.Ala56GlyfsTer?
XR_427718.1:n.429_435dup
XR_948290.1:n.429_435dup
XR_948291.1:n.429_435dup
XR_001742215.1:n.429_435dup
XR_001742216.1:n.429_435dup
XR_427718.2:n.429_435dup
XR_948290.2:n.429_435dup
XR_948291.2:n.429_435dup
ENST00000245407.7:c.160_166dup ENSP00000245407.3:p.Ala56GlyfsTer?
ENST00000435065.6:n.160_166dup ENSP00000402760.2:p.Ala56GlyfsTer?
ENST00000437841.6:c.160_166dup ENSP00000400553.1:p.Ala56GlyfsTer?