Canonical Allele Identifier: CA2573145626

Gene: OAT

Linked Data

• ClinVar Variation Id: 1623637
• ClinVar RCV Id: RCV002110202
• dbSNP Id: rs2134479102

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124408979del , CM000672.2:g.124408979del	GRCh38
NC_000010.10:g.126097548del , CM000672.1:g.126097548del	GRCh37
NC_000010.9:g.126087538del	NCBI36
NG_008861.1:g.14972del , LRG_685:g.14972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.200-14del MANE Select	ENSP00000357838.5:n.200-14del
ENST00000368845.5:c.200-14del	ENSP00000357838.5:n.200-14del
ENST00000476917.5:n.265-14del
ENST00000490096.5:n.436-14del
ENST00000492376.1:n.548-14del
ENST00000539214.5:c.-215-14del	ENSP00000439042.1:n.-215-14del
NM_000274.3:c.200-14del , LRG_685t1:c.200-14del	NP_000265.1:n.200-14del
NM_001171814.1:c.-215-14del	NP_001165285.1:n.-215-14del
XM_006717871.2:c.200-14del	XP_006717934.1:n.200-14del
XM_011539833.1:c.200-14del	XP_011538135.1:n.200-14del
XM_011539834.1:c.200-14del	XP_011538136.1:n.200-14del
NM_001322965.1:c.200-14del	NP_001309894.1:n.200-14del
NM_001322966.1:c.200-14del	NP_001309895.1:n.200-14del
NM_001322967.1:c.200-14del	NP_001309896.1:n.200-14del
NM_001322968.1:c.200-14del	NP_001309897.1:n.200-14del
NM_001322969.1:c.200-14del	NP_001309898.1:n.200-14del
NM_001322970.1:c.200-14del	NP_001309899.1:n.200-14del
NM_001322971.1:c.199+2994del	NP_001309900.1:n.199+2994del
NM_001322974.1:c.-515-14del	NP_001309903.1:n.-515-14del
XM_017016279.1:c.-2254-14del	XP_016871768.1:n.-2254-14del
NM_000274.4:c.200-14del MANE Select	NP_000265.1:n.200-14del
NM_001322965.2:c.200-14del	NP_001309894.1:n.200-14del
NM_001322966.2:c.200-14del	NP_001309895.1:n.200-14del
NM_001322967.2:c.200-14del	NP_001309896.1:n.200-14del
NM_001322968.2:c.200-14del	NP_001309897.1:n.200-14del
NM_001322969.2:c.200-14del	NP_001309898.1:n.200-14del
NM_001322970.2:c.200-14del	NP_001309899.1:n.200-14del
NM_001322971.2:c.199+2994del	NP_001309900.1:n.199+2994del
NM_001322974.2:c.-515-14del	NP_001309903.1:n.-515-14del
NM_001171814.2:c.-215-14del	NP_001165285.1:n.-215-14del