Canonical Allele Identifier: CA5733526

Gene: OAT

Linked Data

• ClinVar Variation Id: 1017886
• ClinVar RCV Id: RCV001317107
• dbSNP Id: rs121965039
• ExAC: 10:126097170 C / T
• gnomAD v2: 10-126097170-C-T
• gnomAD v3: 10-124408601-C-T
• gnomAD v4: 10-124408601-C-T
• MyVariant Identifiers: chr10:g.126097170C>T (hg19) ; chr10:g.124408601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124408601C>T , CM000672.2:g.124408601C>T	GRCh38
NC_000010.10:g.126097170C>T , CM000672.1:g.126097170C>T	GRCh37
NC_000010.9:g.126087160C>T	NCBI36
NG_008861.1:g.15350G>A , LRG_685:g.15350G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368845.6:c.461G>A MANE Select	ENSP00000357838.5:p.Arg154His
ENST00000368845.5:c.461G>A	ENSP00000357838.5:p.Arg154His
ENST00000467675.5:n.88G>A
ENST00000476917.5:n.526G>A
ENST00000539214.5:c.47G>A	ENSP00000439042.1:p.Arg16His
NM_000274.3:c.461G>A , LRG_685t1:c.461G>A	NP_000265.1:p.Arg154His
NM_001171814.1:c.47G>A	NP_001165285.1:p.Arg16His
XM_006717871.2:c.461G>A	XP_006717934.1:p.Arg154His
XM_011539833.1:c.461G>A	XP_011538135.1:p.Arg154His
XM_011539834.1:c.461G>A	XP_011538136.1:p.Arg154His
NM_001322965.1:c.461G>A	NP_001309894.1:p.Arg154His
NM_001322966.1:c.461G>A	NP_001309895.1:p.Arg154His
NM_001322967.1:c.461G>A	NP_001309896.1:p.Arg154His
NM_001322968.1:c.461G>A	NP_001309897.1:p.Arg154His
NM_001322969.1:c.461G>A	NP_001309898.1:p.Arg154His
NM_001322970.1:c.461G>A	NP_001309899.1:p.Arg154His
NM_001322971.1:c.200-3038G>A	NP_001309900.1:n.200-3038G>A
NM_001322974.1:c.-254G>A	NP_001309903.1:n.-254G>A
XM_017016279.1:c.-1993G>A	XP_016871768.1:n.-1993G>A
NM_000274.4:c.461G>A MANE Select	NP_000265.1:p.Arg154His
NM_001322965.2:c.461G>A	NP_001309894.1:p.Arg154His
NM_001322966.2:c.461G>A	NP_001309895.1:p.Arg154His
NM_001322967.2:c.461G>A	NP_001309896.1:p.Arg154His
NM_001322968.2:c.461G>A	NP_001309897.1:p.Arg154His
NM_001322969.2:c.461G>A	NP_001309898.1:p.Arg154His
NM_001322970.2:c.461G>A	NP_001309899.1:p.Arg154His
NM_001322971.2:c.200-3038G>A	NP_001309900.1:n.200-3038G>A
NM_001322974.2:c.-254G>A	NP_001309903.1:n.-254G>A
NM_001171814.2:c.47G>A	NP_001165285.1:p.Arg16His