Canonical Allele Identifier: CA090920
Gene: SLC22A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38794
dbSNP Id: rs28383481

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393688G>A , CM000667.2:g.132393688G>A GRCh38
NC_000005.9:g.131729380G>A , CM000667.1:g.131729380G>A GRCh37
NC_000005.8:g.131757279G>A NCBI36
NG_008982.1:g.28980G>A
NG_008982.2:g.28985G>A

Transcript Alleles

HGVS Amino-acid change
NM_001308122.1:c.1535G>A VV NP_001295051.1:p.Arg512His
NM_003060.3:c.1463G>A VV NP_003051.1:p.Arg488His
XM_011543590.1:c.845G>A XP_011541892.1:p.Arg282His
XR_948290.1:n.1589G>A
XM_011543590.2:c.845G>A XP_011541892.1:p.Arg282His
XM_017009778.2:c.935G>A XP_016865267.1:p.Arg312His
XR_001742215.1:n.1718G>A
XR_001742216.1:n.1737G>A
XR_427718.2:n.1823G>A
XR_948290.2:n.1589G>A
XR_948291.2:n.1817G>A
ENST00000245407.7:c.1463G>A ENSP00000245407.3:p.Arg488His
ENST00000435065.6:n.1535G>A ENSP00000402760.2:p.Arg512His
ENST00000447841.5:n.307G>A
ENST00000448810.5:n.725G>A
ENST00000461013.5:n.8885G>A
ENST00000475308.1:n.2141G>A