Canonical Allele Identifier: CA5733277

Gene: OAT

Linked Data

• ClinVar Variation Id: 1004427
• ClinVar RCV Id: RCV001301130
• dbSNP Id: rs774831749
• ExAC: 10:126086545 A / G
• gnomAD v2: 10-126086545-A-G
• gnomAD v3: 10-124397976-A-G
• gnomAD v4: 10-124397976-A-G
• MyVariant Identifiers: chr10:g.126086545A>G (hg19) ; chr10:g.124397976A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124397976A>G , CM000672.2:g.124397976A>G	GRCh38
NC_000010.10:g.126086545A>G , CM000672.1:g.126086545A>G	GRCh37
NC_000010.9:g.126076535A>G	NCBI36
NG_008861.1:g.25975T>C , LRG_685:g.25975T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368845.6:c.1286T>C MANE Select	ENSP00000357838.5:p.Ile429Thr
ENST00000368845.5:c.1286T>C	ENSP00000357838.5:p.Ile429Thr
ENST00000539214.5:c.872T>C	ENSP00000439042.1:p.Ile291Thr
NM_000274.3:c.1286T>C , LRG_685t1:c.1286T>C	NP_000265.1:p.Ile429Thr
NM_001171814.1:c.872T>C	NP_001165285.1:p.Ile291Thr
XM_006717871.2:c.1286T>C	XP_006717934.1:p.Ile429Thr
XM_011539833.1:c.1286T>C	XP_011538135.1:p.Ile429Thr
XM_011539834.1:c.1286T>C	XP_011538136.1:p.Ile429Thr
NM_001322965.1:c.1286T>C	NP_001309894.1:p.Ile429Thr
NM_001322966.1:c.1286T>C	NP_001309895.1:p.Ile429Thr
NM_001322967.1:c.1286T>C	NP_001309896.1:p.Ile429Thr
NM_001322968.1:c.1286T>C	NP_001309897.1:p.Ile429Thr
NM_001322969.1:c.1286T>C	NP_001309898.1:p.Ile429Thr
NM_001322970.1:c.1286T>C	NP_001309899.1:p.Ile429Thr
NM_001322971.1:c.965T>C	NP_001309900.1:p.Ile322Thr
NM_001322974.1:c.686T>C	NP_001309903.1:p.Ile229Thr
XM_017016279.1:c.686T>C	XP_016871768.1:p.Ile229Thr
NM_000274.4:c.1286T>C MANE Select	NP_000265.1:p.Ile429Thr
NM_001322965.2:c.1286T>C	NP_001309894.1:p.Ile429Thr
NM_001322966.2:c.1286T>C	NP_001309895.1:p.Ile429Thr
NM_001322967.2:c.1286T>C	NP_001309896.1:p.Ile429Thr
NM_001322968.2:c.1286T>C	NP_001309897.1:p.Ile429Thr
NM_001322969.2:c.1286T>C	NP_001309898.1:p.Ile429Thr
NM_001322970.2:c.1286T>C	NP_001309899.1:p.Ile429Thr
NM_001322971.2:c.965T>C	NP_001309900.1:p.Ile322Thr
NM_001322974.2:c.686T>C	NP_001309903.1:p.Ile229Thr
NM_001171814.2:c.872T>C	NP_001165285.1:p.Ile291Thr