Canonical Allele Identifier: CA16040983
Gene: SLC22A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370325
ClinVar RCV Id: RCV000411687
dbSNP Id: rs1057516402

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132394183A>G , CM000667.2:g.132394183A>G GRCh38
NC_000005.9:g.131729875A>G , CM000667.1:g.131729875A>G GRCh37
NC_000005.8:g.131757774A>G NCBI36
NG_008982.1:g.29475A>G
NG_008982.2:g.29480A>G

Transcript Alleles

HGVS Amino-acid change
NM_001308122.1:c.1659-2A>G VV NP_001295051.1:p.=
NM_003060.3:c.1587-2A>G VV NP_003051.1:p.=
XM_011543590.1:c.969-2A>G XP_011541892.1:p.=
XR_948290.1:n.1713-2A>G
XM_011543590.2:c.969-2A>G
XM_017009778.2:c.1059-2A>G XP_016865267.1:p.=
XR_001742215.1:n.1842-2A>G
XR_001742216.1:n.1861-2A>G
XR_427718.2:n.1947-2A>G
XR_948290.2:n.1713-2A>G
XR_948291.2:n.1941-2A>G
ENST00000245407.7:c.1587-2A>G ENSP00000245407.3:p.=
ENST00000435065.6:n.1659-2A>G ENSP00000402760.2:p.=
ENST00000447841.5:n.431-2A>G
ENST00000461013.5:n.9009-2A>G
ENST00000475308.1:n.2265-2A>G