Canonical Allele Identifier: CA16043446

Gene: OAT

Linked Data

• ClinVar Variation Id: 374146
• ClinVar RCV Id: RCV000415047 ; RCV001198514
• dbSNP Id: rs1057518927
• MyVariant Identifiers: chr10:g.126091521T>C (hg19) ; chr10:g.124402952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124402952T>C , CM000672.2:g.124402952T>C	GRCh38
NC_000010.10:g.126091521T>C , CM000672.1:g.126091521T>C	GRCh37
NC_000010.9:g.126081511T>C	NCBI36
NG_008861.1:g.20999A>G , LRG_685:g.20999A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.875A>G MANE Select	ENSP00000357838.5:p.Lys292Arg
ENST00000368845.5:c.875A>G	ENSP00000357838.5:p.Lys292Arg
ENST00000467675.5:n.676A>G
ENST00000471127.1:n.385A>G
ENST00000539214.5:c.461A>G	ENSP00000439042.1:p.Lys154Arg
NM_000274.3:c.875A>G , LRG_685t1:c.875A>G	NP_000265.1:p.Lys292Arg
NM_001171814.1:c.461A>G	NP_001165285.1:p.Lys154Arg
XM_006717871.2:c.875A>G	XP_006717934.1:p.Lys292Arg
XM_011539833.1:c.875A>G	XP_011538135.1:p.Lys292Arg
XM_011539834.1:c.875A>G	XP_011538136.1:p.Lys292Arg
NM_001322965.1:c.875A>G	NP_001309894.1:p.Lys292Arg
NM_001322966.1:c.875A>G	NP_001309895.1:p.Lys292Arg
NM_001322967.1:c.875A>G	NP_001309896.1:p.Lys292Arg
NM_001322968.1:c.875A>G	NP_001309897.1:p.Lys292Arg
NM_001322969.1:c.875A>G	NP_001309898.1:p.Lys292Arg
NM_001322970.1:c.875A>G	NP_001309899.1:p.Lys292Arg
NM_001322971.1:c.554A>G	NP_001309900.1:p.Lys185Arg
NM_001322974.1:c.275A>G	NP_001309903.1:p.Lys92Arg
XM_017016279.1:c.275A>G	XP_016871768.1:p.Lys92Arg
NM_000274.4:c.875A>G MANE Select	NP_000265.1:p.Lys292Arg
NM_001322965.2:c.875A>G	NP_001309894.1:p.Lys292Arg
NM_001322966.2:c.875A>G	NP_001309895.1:p.Lys292Arg
NM_001322967.2:c.875A>G	NP_001309896.1:p.Lys292Arg
NM_001322968.2:c.875A>G	NP_001309897.1:p.Lys292Arg
NM_001322969.2:c.875A>G	NP_001309898.1:p.Lys292Arg
NM_001322970.2:c.875A>G	NP_001309899.1:p.Lys292Arg
NM_001322971.2:c.554A>G	NP_001309900.1:p.Lys185Arg
NM_001322974.2:c.275A>G	NP_001309903.1:p.Lys92Arg
NM_001171814.2:c.461A>G	NP_001165285.1:p.Lys154Arg