Canonical Allele Identifier: CA16618115
Gene: SLC22A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 418492
ClinVar RCV Id: RCV000481536
dbSNP Id: rs1045644394

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132370174C>T , CM000667.2:g.132370174C>T GRCh38
NC_000005.9:g.131705866C>T , CM000667.1:g.131705866C>T GRCh37
NC_000005.8:g.131733765C>T NCBI36
NG_008982.1:g.5466C>T
NG_008982.2:g.5471C>T

Transcript Alleles

HGVS Amino-acid change
NM_001308122.1:c.202C>T VV NP_001295051.1:p.Pro68Ser
NM_003060.3:c.202C>T VV NP_003051.1:p.Pro68Ser
XR_427718.1:n.471C>T
XR_948290.1:n.471C>T
XR_948291.1:n.471C>T
XM_011543590.2:c.-430C>T
XR_001742215.1:n.471C>T
XR_001742216.1:n.471C>T
XR_427718.2:n.471C>T
XR_948290.2:n.471C>T
XR_948291.2:n.471C>T
ENST00000245407.7:c.202C>T ENSP00000245407.3:p.Pro68Ser
ENST00000435065.6:n.202C>T ENSP00000402760.2:p.Pro68Ser
ENST00000437841.6:c.202C>T ENSP00000400553.1:p.Pro68Ser