Canonical Allele Identifier: CA342598
Gene: SLC22A5 HGNC NCBI
MIR3936HG HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.132369824G>A
GRCh37 chr5:g.131705516G>A
gnomAD v2:
5:131705516 G / A
gnomAD v3:
5:132369824 G / A
gnomAD v4:
chr5-132369824-G-A
Joint Max Group AF 0.00334477 (NFE)
Genomes Max Group AF 0.00220675 (NFE)
Exomes Max Group AF 0.00343887 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132369824G>A , CM000667.2:g.132369824G>A GRCh38
NC_000005.9:g.131705516G>A , CM000667.1:g.131705516G>A GRCh37
NC_000005.8:g.131733415G>A NCBI36
NG_008982.1:g.5116G>A
NG_008982.2:g.5121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435065.7:c.-149G>A (SLC22A5) ENSP00000402760.2:n.-149G>A
ENST00000245407.8:c.-149G>A (SLC22A5) MANE Select ENSP00000245407.3:n.-149G>A
ENST00000245407.7:c.-149G>A (SLC22A5) ENSP00000245407.3:n.-149G>A
NM_001308122.1:c.-149G>A (SLC22A5) NP_001295051.1:n.-149G>A
NM_003060.3:c.-149G>A (SLC22A5) NP_003051.1:n.-149G>A
NR_110997.1:n.73+20C>T (MIR3936HG)
XR_427718.1:n.121G>A (SLC22A5)
XR_948290.1:n.121G>A (SLC22A5)
XR_948291.1:n.121G>A (SLC22A5)
XR_001742215.1:n.121G>A (SLC22A5)
XR_001742216.1:n.121G>A (SLC22A5)
XR_427718.2:n.121G>A (SLC22A5)
XR_948290.2:n.121G>A (SLC22A5)
XR_948291.2:n.121G>A (SLC22A5)
NM_003060.4:c.-149G>A (SLC22A5) MANE Select NP_003051.1:n.-149G>A
NM_001308122.2:c.-149G>A (SLC22A5) NP_001295051.1:n.-149G>A
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