Canonical Allele Identifier: CA1139655877

Gene: SLC22A5 MIR3936HG

Linked Data

• ClinVar Variation Id: 906482
• ClinVar RCV Id: RCV001155677
• dbSNP Id: rs1751803560
• gnomAD v4: 5-132369742-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132369742G>C , CM000667.2:g.132369742G>C	GRCh38
NC_000005.9:g.131705434G>C , CM000667.1:g.131705434G>C	GRCh37
NC_000005.8:g.131733333G>C	NCBI36
NG_008982.1:g.5034G>C
NG_008982.2:g.5039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245407.8:c.-231G>C (SLC22A5) MANE Select	ENSP00000245407.3:n.-231G>C
NM_001308122.1:c.-231G>C (SLC22A5)	NP_001295051.1:n.-231G>C
NM_003060.3:c.-231G>C (SLC22A5)	NP_003051.1:n.-231G>C
NR_110997.1:n.73+102C>G (MIR3936HG)
XR_427718.1:n.39G>C (SLC22A5)
XR_948290.1:n.39G>C (SLC22A5)
XR_948291.1:n.39G>C (SLC22A5)
XR_001742215.1:n.39G>C (SLC22A5)
XR_001742216.1:n.39G>C (SLC22A5)
XR_427718.2:n.39G>C (SLC22A5)
XR_948290.2:n.39G>C (SLC22A5)
XR_948291.2:n.39G>C (SLC22A5)
NM_003060.4:c.-231G>C (SLC22A5) MANE Select	NP_003051.1:n.-231G>C
NM_001308122.2:c.-231G>C (SLC22A5)	NP_001295051.1:n.-231G>C