Canonical Allele Identifier: CA5733488

Gene: OAT

Linked Data

• dbSNP Id: rs372492529
• ExAC: 10:126094040 C / T
• gnomAD v2: 10-126094040-C-T
• gnomAD v3: 10-124405471-C-T
• gnomAD v4: 10-124405471-C-T
• MyVariant Identifiers: chr10:g.126094040C>T (hg19) ; chr10:g.124405471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124405471C>T , CM000672.2:g.124405471C>T	GRCh38
NC_000010.10:g.126094040C>T , CM000672.1:g.126094040C>T	GRCh37
NC_000010.9:g.126084030C>T	NCBI36
NG_008861.1:g.18480G>A , LRG_685:g.18480G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.613G>A MANE Select	ENSP00000357838.5:p.Asp205Asn
ENST00000368845.5:c.613G>A	ENSP00000357838.5:p.Asp205Asn
ENST00000467675.5:n.414G>A
ENST00000483711.1:n.459G>A
ENST00000539214.5:c.199G>A	ENSP00000439042.1:p.Asp67Asn
NM_000274.3:c.613G>A , LRG_685t1:c.613G>A	NP_000265.1:p.Asp205Asn
NM_001171814.1:c.199G>A	NP_001165285.1:p.Asp67Asn
XM_006717871.2:c.613G>A	XP_006717934.1:p.Asp205Asn
XM_011539833.1:c.613G>A	XP_011538135.1:p.Asp205Asn
XM_011539834.1:c.613G>A	XP_011538136.1:p.Asp205Asn
NM_001322965.1:c.613G>A	NP_001309894.1:p.Asp205Asn
NM_001322966.1:c.613G>A	NP_001309895.1:p.Asp205Asn
NM_001322967.1:c.613G>A	NP_001309896.1:p.Asp205Asn
NM_001322968.1:c.613G>A	NP_001309897.1:p.Asp205Asn
NM_001322969.1:c.613G>A	NP_001309898.1:p.Asp205Asn
NM_001322970.1:c.613G>A	NP_001309899.1:p.Asp205Asn
NM_001322971.1:c.292G>A	NP_001309900.1:p.Asp98Asn
NM_001322974.1:c.13G>A	NP_001309903.1:p.Asp5Asn
XM_017016279.1:c.13G>A	XP_016871768.1:p.Asp5Asn
NM_000274.4:c.613G>A MANE Select	NP_000265.1:p.Asp205Asn
NM_001322965.2:c.613G>A	NP_001309894.1:p.Asp205Asn
NM_001322966.2:c.613G>A	NP_001309895.1:p.Asp205Asn
NM_001322967.2:c.613G>A	NP_001309896.1:p.Asp205Asn
NM_001322968.2:c.613G>A	NP_001309897.1:p.Asp205Asn
NM_001322969.2:c.613G>A	NP_001309898.1:p.Asp205Asn
NM_001322970.2:c.613G>A	NP_001309899.1:p.Asp205Asn
NM_001322971.2:c.292G>A	NP_001309900.1:p.Asp98Asn
NM_001322974.2:c.13G>A	NP_001309903.1:p.Asp5Asn
NM_001171814.2:c.199G>A	NP_001165285.1:p.Asp67Asn