Canonical Allele Identifier: CA5733417

Gene: OAT

Linked Data

• ClinVar Variation Id: 444240
• ClinVar RCV Id: RCV000513591 ; RCV000995825
• dbSNP Id: rs770390524
• ExAC: 10:126091625 C / T
• gnomAD v2: 10-126091625-C-T
• gnomAD v4: 10-124403056-C-T
• MyVariant Identifiers: chr10:g.126091625C>T (hg19) ; chr10:g.124403056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124403056C>T , CM000672.2:g.124403056C>T	GRCh38
NC_000010.10:g.126091625C>T , CM000672.1:g.126091625C>T	GRCh37
NC_000010.9:g.126081615C>T	NCBI36
NG_008861.1:g.20895G>A , LRG_685:g.20895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.772-1G>A MANE Select	ENSP00000357838.5:n.772-1G>A
ENST00000368845.5:c.772-1G>A	ENSP00000357838.5:n.772-1G>A
ENST00000467675.5:n.573-1G>A
ENST00000471127.1:n.281G>A
ENST00000539214.5:c.358-1G>A	ENSP00000439042.1:n.358-1G>A
NM_000274.3:c.772-1G>A , LRG_685t1:c.772-1G>A	NP_000265.1:n.772-1G>A
NM_001171814.1:c.358-1G>A	NP_001165285.1:n.358-1G>A
XM_006717871.2:c.772-1G>A	XP_006717934.1:n.772-1G>A
XM_011539833.1:c.772-1G>A	XP_011538135.1:n.772-1G>A
XM_011539834.1:c.772-1G>A	XP_011538136.1:n.772-1G>A
NM_001322965.1:c.772-1G>A	NP_001309894.1:n.772-1G>A
NM_001322966.1:c.772-1G>A	NP_001309895.1:n.772-1G>A
NM_001322967.1:c.772-1G>A	NP_001309896.1:n.772-1G>A
NM_001322968.1:c.772-1G>A	NP_001309897.1:n.772-1G>A
NM_001322969.1:c.772-1G>A	NP_001309898.1:n.772-1G>A
NM_001322970.1:c.772-1G>A	NP_001309899.1:n.772-1G>A
NM_001322971.1:c.451-1G>A	NP_001309900.1:n.451-1G>A
NM_001322974.1:c.172-1G>A	NP_001309903.1:n.172-1G>A
XM_017016279.1:c.172-1G>A	XP_016871768.1:n.172-1G>A
NM_000274.4:c.772-1G>A MANE Select	NP_000265.1:n.772-1G>A
NM_001322965.2:c.772-1G>A	NP_001309894.1:n.772-1G>A
NM_001322966.2:c.772-1G>A	NP_001309895.1:n.772-1G>A
NM_001322967.2:c.772-1G>A	NP_001309896.1:n.772-1G>A
NM_001322968.2:c.772-1G>A	NP_001309897.1:n.772-1G>A
NM_001322969.2:c.772-1G>A	NP_001309898.1:n.772-1G>A
NM_001322970.2:c.772-1G>A	NP_001309899.1:n.772-1G>A
NM_001322971.2:c.451-1G>A	NP_001309900.1:n.451-1G>A
NM_001322974.2:c.172-1G>A	NP_001309903.1:n.172-1G>A
NM_001171814.2:c.358-1G>A	NP_001165285.1:n.358-1G>A