Canonical Allele Identifier: CA113946

Gene: OAT

Linked Data

• ClinVar Variation Id: 158
• ClinVar RCV Id: RCV000000181
• dbSNP Id: rs1800456
• MyVariant Identifiers: chr10:g.126086520C>G (hg19) ; chr10:g.124397951C>G (hg38)
• PubMed: PMID:1737786

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124397951C>G , CM000672.2:g.124397951C>G	GRCh38
NC_000010.10:g.126086520C>G , CM000672.1:g.126086520C>G	GRCh37
NC_000010.9:g.126076510C>G	NCBI36
NG_008861.1:g.26000G>C , LRG_685:g.26000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.1311G>C MANE Select	ENSP00000357838.5:p.Leu437Phe
ENST00000368845.5:c.1311G>C	ENSP00000357838.5:p.Leu437Phe
ENST00000539214.5:c.897G>C	ENSP00000439042.1:p.Leu299Phe
NM_000274.3:c.1311G>C , LRG_685t1:c.1311G>C	NP_000265.1:p.Leu437Phe
NM_001171814.1:c.897G>C	NP_001165285.1:p.Leu299Phe
XM_006717871.2:c.1311G>C	XP_006717934.1:p.Leu437Phe
XM_011539833.1:c.1311G>C	XP_011538135.1:p.Leu437Phe
XM_011539834.1:c.1311G>C	XP_011538136.1:p.Leu437Phe
NM_001322965.1:c.1311G>C	NP_001309894.1:p.Leu437Phe
NM_001322966.1:c.1311G>C	NP_001309895.1:p.Leu437Phe
NM_001322967.1:c.1311G>C	NP_001309896.1:p.Leu437Phe
NM_001322968.1:c.1311G>C	NP_001309897.1:p.Leu437Phe
NM_001322969.1:c.1311G>C	NP_001309898.1:p.Leu437Phe
NM_001322970.1:c.1311G>C	NP_001309899.1:p.Leu437Phe
NM_001322971.1:c.990G>C	NP_001309900.1:p.Leu330Phe
NM_001322974.1:c.711G>C	NP_001309903.1:p.Leu237Phe
XM_017016279.1:c.711G>C	XP_016871768.1:p.Leu237Phe
NM_000274.4:c.1311G>C MANE Select	NP_000265.1:p.Leu437Phe
NM_001322965.2:c.1311G>C	NP_001309894.1:p.Leu437Phe
NM_001322966.2:c.1311G>C	NP_001309895.1:p.Leu437Phe
NM_001322967.2:c.1311G>C	NP_001309896.1:p.Leu437Phe
NM_001322968.2:c.1311G>C	NP_001309897.1:p.Leu437Phe
NM_001322969.2:c.1311G>C	NP_001309898.1:p.Leu437Phe
NM_001322970.2:c.1311G>C	NP_001309899.1:p.Leu437Phe
NM_001322971.2:c.990G>C	NP_001309900.1:p.Leu330Phe
NM_001322974.2:c.711G>C	NP_001309903.1:p.Leu237Phe
NM_001171814.2:c.897G>C	NP_001165285.1:p.Leu299Phe