Canonical Allele Identifier: CA144134
Gene: OAT HGNC NCBI

Linked Data

ClinVar Variation Id: 56112
ClinVar RCV Id: RCV000049521
dbSNP Id: rs386833595
gnomAD v2: 10-126089450-C-T
gnomAD v4: 10-124400881-C-T
MyVariant Identifiers: chr10:g.126089450C>T (hg19) chr10:g.124400881C>T (hg38)
PubMed: PMID:1609808
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124400881C>T , CM000672.2:g.124400881C>T GRCh38
NC_000010.10:g.126089450C>T , CM000672.1:g.126089450C>T GRCh37
NC_000010.9:g.126079440C>T NCBI36
NG_008861.1:g.23070G>A , LRG_685:g.23070G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368845.6:c.1118G>A MANE Select ENSP00000357838.5:p.Gly373Glu
ENST00000368845.5:c.1118G>A ENSP00000357838.5:p.Gly373Glu
ENST00000471127.1:n.628G>A
ENST00000539214.5:c.704G>A ENSP00000439042.1:p.Gly235Glu
NM_000274.3:c.1118G>A , LRG_685t1:c.1118G>A NP_000265.1:p.Gly373Glu
NM_001171814.1:c.704G>A NP_001165285.1:p.Gly235Glu
XM_006717871.2:c.1118G>A XP_006717934.1:p.Gly373Glu
XM_011539833.1:c.1118G>A XP_011538135.1:p.Gly373Glu
XM_011539834.1:c.1118G>A XP_011538136.1:p.Gly373Glu
NM_001322965.1:c.1118G>A NP_001309894.1:p.Gly373Glu
NM_001322966.1:c.1118G>A NP_001309895.1:p.Gly373Glu
NM_001322967.1:c.1118G>A NP_001309896.1:p.Gly373Glu
NM_001322968.1:c.1118G>A NP_001309897.1:p.Gly373Glu
NM_001322969.1:c.1118G>A NP_001309898.1:p.Gly373Glu
NM_001322970.1:c.1118G>A NP_001309899.1:p.Gly373Glu
NM_001322971.1:c.797G>A NP_001309900.1:p.Gly266Glu
NM_001322974.1:c.518G>A NP_001309903.1:p.Gly173Glu
XM_017016279.1:c.518G>A XP_016871768.1:p.Gly173Glu
NM_000274.4:c.1118G>A MANE Select NP_000265.1:p.Gly373Glu
NM_001322965.2:c.1118G>A NP_001309894.1:p.Gly373Glu
NM_001322966.2:c.1118G>A NP_001309895.1:p.Gly373Glu
NM_001322967.2:c.1118G>A NP_001309896.1:p.Gly373Glu
NM_001322968.2:c.1118G>A NP_001309897.1:p.Gly373Glu
NM_001322969.2:c.1118G>A NP_001309898.1:p.Gly373Glu
NM_001322970.2:c.1118G>A NP_001309899.1:p.Gly373Glu
NM_001322971.2:c.797G>A NP_001309900.1:p.Gly266Glu
NM_001322974.2:c.518G>A NP_001309903.1:p.Gly173Glu
NM_001171814.2:c.704G>A NP_001165285.1:p.Gly235Glu
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