Canonical Allele Identifier: CA113920
Gene: OAT HGNC NCBI

Linked Data

ClinVar Variation Id: 149
ClinVar RCV Id: RCV000000172 RCV000760452
dbSNP Id: rs121965036
gnomAD v4: 10-124398076-G-A
MyVariant Identifiers: chr10:g.126086645G>A (hg19) chr10:g.124398076G>A (hg38)
PubMed: PMID:1737786 PMID:3339136
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124398076G>A , CM000672.2:g.124398076G>A GRCh38
NC_000010.10:g.126086645G>A , CM000672.1:g.126086645G>A GRCh37
NC_000010.9:g.126076635G>A NCBI36
NG_008861.1:g.25875C>T , LRG_685:g.25875C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368845.6:c.1186C>T MANE Select ENSP00000357838.5:p.Arg396Ter
ENST00000368845.5:c.1186C>T ENSP00000357838.5:p.Arg396Ter
ENST00000471127.1:n.696C>T
ENST00000539214.5:c.772C>T ENSP00000439042.1:p.Arg258Ter
NM_000274.3:c.1186C>T , LRG_685t1:c.1186C>T NP_000265.1:p.Arg396Ter
NM_001171814.1:c.772C>T NP_001165285.1:p.Arg258Ter
XM_006717871.2:c.1186C>T XP_006717934.1:p.Arg396Ter
XM_011539833.1:c.1186C>T XP_011538135.1:p.Arg396Ter
XM_011539834.1:c.1186C>T XP_011538136.1:p.Arg396Ter
NM_001322965.1:c.1186C>T NP_001309894.1:p.Arg396Ter
NM_001322966.1:c.1186C>T NP_001309895.1:p.Arg396Ter
NM_001322967.1:c.1186C>T NP_001309896.1:p.Arg396Ter
NM_001322968.1:c.1186C>T NP_001309897.1:p.Arg396Ter
NM_001322969.1:c.1186C>T NP_001309898.1:p.Arg396Ter
NM_001322970.1:c.1186C>T NP_001309899.1:p.Arg396Ter
NM_001322971.1:c.865C>T NP_001309900.1:p.Arg289Ter
NM_001322974.1:c.586C>T NP_001309903.1:p.Arg196Ter
XM_017016279.1:c.586C>T XP_016871768.1:p.Arg196Ter
NM_000274.4:c.1186C>T MANE Select NP_000265.1:p.Arg396Ter
NM_001322965.2:c.1186C>T NP_001309894.1:p.Arg396Ter
NM_001322966.2:c.1186C>T NP_001309895.1:p.Arg396Ter
NM_001322967.2:c.1186C>T NP_001309896.1:p.Arg396Ter
NM_001322968.2:c.1186C>T NP_001309897.1:p.Arg396Ter
NM_001322969.2:c.1186C>T NP_001309898.1:p.Arg396Ter
NM_001322970.2:c.1186C>T NP_001309899.1:p.Arg396Ter
NM_001322971.2:c.865C>T NP_001309900.1:p.Arg289Ter
NM_001322974.2:c.586C>T NP_001309903.1:p.Arg196Ter
NM_001171814.2:c.772C>T NP_001165285.1:p.Arg258Ter
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