Canonical Allele Identifier: CA378633030

Gene: OAT

Linked Data

• MyVariant Identifiers: chr10:g.126086548G>C (hg19) ; chr10:g.124397979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124397979G>C , CM000672.2:g.124397979G>C	GRCh38
NC_000010.10:g.126086548G>C , CM000672.1:g.126086548G>C	GRCh37
NC_000010.9:g.126076538G>C	NCBI36
NG_008861.1:g.25972C>G , LRG_685:g.25972C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368845.6:c.1283C>G MANE Select	ENSP00000357838.5:p.Ser428Cys
ENST00000368845.5:c.1283C>G	ENSP00000357838.5:p.Ser428Cys
ENST00000539214.5:c.869C>G	ENSP00000439042.1:p.Ser290Cys
NM_000274.3:c.1283C>G , LRG_685t1:c.1283C>G	NP_000265.1:p.Ser428Cys
NM_001171814.1:c.869C>G	NP_001165285.1:p.Ser290Cys
XM_006717871.2:c.1283C>G	XP_006717934.1:p.Ser428Cys
XM_011539833.1:c.1283C>G	XP_011538135.1:p.Ser428Cys
XM_011539834.1:c.1283C>G	XP_011538136.1:p.Ser428Cys
NM_001322965.1:c.1283C>G	NP_001309894.1:p.Ser428Cys
NM_001322966.1:c.1283C>G	NP_001309895.1:p.Ser428Cys
NM_001322967.1:c.1283C>G	NP_001309896.1:p.Ser428Cys
NM_001322968.1:c.1283C>G	NP_001309897.1:p.Ser428Cys
NM_001322969.1:c.1283C>G	NP_001309898.1:p.Ser428Cys
NM_001322970.1:c.1283C>G	NP_001309899.1:p.Ser428Cys
NM_001322971.1:c.962C>G	NP_001309900.1:p.Ser321Cys
NM_001322974.1:c.683C>G	NP_001309903.1:p.Ser228Cys
XM_017016279.1:c.683C>G	XP_016871768.1:p.Ser228Cys
NM_000274.4:c.1283C>G MANE Select	NP_000265.1:p.Ser428Cys
NM_001322965.2:c.1283C>G	NP_001309894.1:p.Ser428Cys
NM_001322966.2:c.1283C>G	NP_001309895.1:p.Ser428Cys
NM_001322967.2:c.1283C>G	NP_001309896.1:p.Ser428Cys
NM_001322968.2:c.1283C>G	NP_001309897.1:p.Ser428Cys
NM_001322969.2:c.1283C>G	NP_001309898.1:p.Ser428Cys
NM_001322970.2:c.1283C>G	NP_001309899.1:p.Ser428Cys
NM_001322971.2:c.962C>G	NP_001309900.1:p.Ser321Cys
NM_001322974.2:c.683C>G	NP_001309903.1:p.Ser228Cys
NM_001171814.2:c.869C>G	NP_001165285.1:p.Ser290Cys