Canonical Allele Identifier: CA144156

Gene: OAT

Linked Data

• ClinVar Variation Id: 56125
• ClinVar RCV Id: RCV000049534
• dbSNP Id: rs386833607
• gnomAD v2: 10-126097352-T-TA
• gnomAD v4: 10-124408783-T-TA
• MyVariant Identifiers: chr10:g.126097353dupA (hg19) ; chr10:g.126097352_126097353insA (hg19) ; chr10:g.124408784dupA (hg38) ; chr10:g.124408783_124408784insA (hg38)
• PubMed: PMID:1737786

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124408785dup , CM000672.2:g.124408785dup	GRCh38
NC_000010.10:g.126097354dup , CM000672.1:g.126097354dup	GRCh37
NC_000010.9:g.126087344dup	NCBI36
NG_008861.1:g.15167dup , LRG_685:g.15167dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.381dup MANE Select	ENSP00000357838.5:p.Thr128TyrfsTer2
ENST00000368845.5:c.381dup	ENSP00000357838.5:p.Thr128TyrfsTer2
ENST00000467675.5:n.8dup
ENST00000476917.5:n.446dup
ENST00000539214.5:c.-34dup	ENSP00000439042.1:n.-34dup
NM_000274.3:c.381dup , LRG_685t1:c.381dup	NP_000265.1:p.Thr128TyrfsTer2
NM_001171814.1:c.-34dup	NP_001165285.1:n.-34dup
XM_006717871.2:c.381dup	XP_006717934.1:p.Thr128TyrfsTer2
XM_011539833.1:c.381dup	XP_011538135.1:p.Thr128TyrfsTer2
XM_011539834.1:c.381dup	XP_011538136.1:p.Thr128TyrfsTer2
NM_001322965.1:c.381dup	NP_001309894.1:p.Thr128TyrfsTer2
NM_001322966.1:c.381dup	NP_001309895.1:p.Thr128TyrfsTer2
NM_001322967.1:c.381dup	NP_001309896.1:p.Thr128TyrfsTer2
NM_001322968.1:c.381dup	NP_001309897.1:p.Thr128TyrfsTer2
NM_001322969.1:c.381dup	NP_001309898.1:p.Thr128TyrfsTer2
NM_001322970.1:c.381dup	NP_001309899.1:p.Thr128TyrfsTer2
NM_001322971.1:c.199+3189dup	NP_001309900.1:n.199+3189dup
NM_001322974.1:c.-334dup	NP_001309903.1:n.-334dup
XM_017016279.1:c.-2073dup	XP_016871768.1:n.-2073dup
NM_000274.4:c.381dup MANE Select	NP_000265.1:p.Thr128TyrfsTer2
NM_001322965.2:c.381dup	NP_001309894.1:p.Thr128TyrfsTer2
NM_001322966.2:c.381dup	NP_001309895.1:p.Thr128TyrfsTer2
NM_001322967.2:c.381dup	NP_001309896.1:p.Thr128TyrfsTer2
NM_001322968.2:c.381dup	NP_001309897.1:p.Thr128TyrfsTer2
NM_001322969.2:c.381dup	NP_001309898.1:p.Thr128TyrfsTer2
NM_001322970.2:c.381dup	NP_001309899.1:p.Thr128TyrfsTer2
NM_001322971.2:c.199+3189dup	NP_001309900.1:n.199+3189dup
NM_001322974.2:c.-334dup	NP_001309903.1:n.-334dup
NM_001171814.2:c.-34dup	NP_001165285.1:n.-34dup