Canonical Allele Identifier: CA471762613

Gene: OAT

Linked Data

• ClinVar Variation Id: 1141456
• ClinVar RCV Id: RCV001478898
• dbSNP Id: rs2134450338
• MyVariant Identifiers: chr10:g.126089442A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124400873A>G , CM000672.2:g.124400873A>G	GRCh38
NC_000010.10:g.126089442A>G , CM000672.1:g.126089442A>G	GRCh37
NC_000010.9:g.126079432A>G	NCBI36
NG_008861.1:g.23078T>C , LRG_685:g.23078T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368845.6:c.1126T>C MANE Select	ENSP00000357838.5:p.Leu376=
ENST00000368845.5:c.1126T>C	ENSP00000357838.5:p.Leu376=
ENST00000471127.1:n.636T>C
ENST00000539214.5:c.712T>C	ENSP00000439042.1:p.Leu238=
NM_000274.3:c.1126T>C , LRG_685t1:c.1126T>C	NP_000265.1:p.Leu376=
NM_001171814.1:c.712T>C	NP_001165285.1:p.Leu238=
XM_006717871.2:c.1126T>C	XP_006717934.1:p.Leu376=
XM_011539833.1:c.1126T>C	XP_011538135.1:p.Leu376=
XM_011539834.1:c.1126T>C	XP_011538136.1:p.Leu376=
NM_001322965.1:c.1126T>C	NP_001309894.1:p.Leu376=
NM_001322966.1:c.1126T>C	NP_001309895.1:p.Leu376=
NM_001322967.1:c.1126T>C	NP_001309896.1:p.Leu376=
NM_001322968.1:c.1126T>C	NP_001309897.1:p.Leu376=
NM_001322969.1:c.1126T>C	NP_001309898.1:p.Leu376=
NM_001322970.1:c.1126T>C	NP_001309899.1:p.Leu376=
NM_001322971.1:c.805T>C	NP_001309900.1:p.Leu269=
NM_001322974.1:c.526T>C	NP_001309903.1:p.Leu176=
XM_017016279.1:c.526T>C	XP_016871768.1:p.Leu176=
NM_000274.4:c.1126T>C MANE Select	NP_000265.1:p.Leu376=
NM_001322965.2:c.1126T>C	NP_001309894.1:p.Leu376=
NM_001322966.2:c.1126T>C	NP_001309895.1:p.Leu376=
NM_001322967.2:c.1126T>C	NP_001309896.1:p.Leu376=
NM_001322968.2:c.1126T>C	NP_001309897.1:p.Leu376=
NM_001322969.2:c.1126T>C	NP_001309898.1:p.Leu376=
NM_001322970.2:c.1126T>C	NP_001309899.1:p.Leu376=
NM_001322971.2:c.805T>C	NP_001309900.1:p.Leu269=
NM_001322974.2:c.526T>C	NP_001309903.1:p.Leu176=
NM_001171814.2:c.712T>C	NP_001165285.1:p.Leu238=