Canonical Allele Identifier: CA471762499
Gene: OAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2731276
ClinVar RCV Id: RCV003497271
MyVariant Identifiers: chr10:g.126086547G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124397978G>C , CM000672.2:g.124397978G>C GRCh38
NC_000010.10:g.126086547G>C , CM000672.1:g.126086547G>C GRCh37
NC_000010.9:g.126076537G>C NCBI36
NG_008861.1:g.25973C>G , LRG_685:g.25973C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000368845.6:c.1284C>G MANE Select ENSP00000357838.5:p.Ser428=
ENST00000368845.5:c.1284C>G ENSP00000357838.5:p.Ser428=
ENST00000539214.5:c.870C>G ENSP00000439042.1:p.Ser290=
NM_000274.3:c.1284C>G , LRG_685t1:c.1284C>G NP_000265.1:p.Ser428=
NM_001171814.1:c.870C>G NP_001165285.1:p.Ser290=
XM_006717871.2:c.1284C>G XP_006717934.1:p.Ser428=
XM_011539833.1:c.1284C>G XP_011538135.1:p.Ser428=
XM_011539834.1:c.1284C>G XP_011538136.1:p.Ser428=
NM_001322965.1:c.1284C>G NP_001309894.1:p.Ser428=
NM_001322966.1:c.1284C>G NP_001309895.1:p.Ser428=
NM_001322967.1:c.1284C>G NP_001309896.1:p.Ser428=
NM_001322968.1:c.1284C>G NP_001309897.1:p.Ser428=
NM_001322969.1:c.1284C>G NP_001309898.1:p.Ser428=
NM_001322970.1:c.1284C>G NP_001309899.1:p.Ser428=
NM_001322971.1:c.963C>G NP_001309900.1:p.Ser321=
NM_001322974.1:c.684C>G NP_001309903.1:p.Ser228=
XM_017016279.1:c.684C>G XP_016871768.1:p.Ser228=
NM_000274.4:c.1284C>G MANE Select NP_000265.1:p.Ser428=
NM_001322965.2:c.1284C>G NP_001309894.1:p.Ser428=
NM_001322966.2:c.1284C>G NP_001309895.1:p.Ser428=
NM_001322967.2:c.1284C>G NP_001309896.1:p.Ser428=
NM_001322968.2:c.1284C>G NP_001309897.1:p.Ser428=
NM_001322969.2:c.1284C>G NP_001309898.1:p.Ser428=
NM_001322970.2:c.1284C>G NP_001309899.1:p.Ser428=
NM_001322971.2:c.963C>G NP_001309900.1:p.Ser321=
NM_001322974.2:c.684C>G NP_001309903.1:p.Ser228=
NM_001171814.2:c.870C>G NP_001165285.1:p.Ser290=