Canonical Allele Identifier: CA471949954

Gene: OAT

Linked Data

• ClinVar Variation Id: 1617384
• ClinVar RCV Id: RCV002076557
• dbSNP Id: rs1951678319
• gnomAD v3: 10-124408901-G-A
• gnomAD v4: 10-124408901-G-A
• MyVariant Identifiers: chr10:g.126097470G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124408901G>A , CM000672.2:g.124408901G>A	GRCh38
NC_000010.10:g.126097470G>A , CM000672.1:g.126097470G>A	GRCh37
NC_000010.9:g.126087460G>A	NCBI36
NG_008861.1:g.15050C>T , LRG_685:g.15050C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368845.6:c.264C>T MANE Select	ENSP00000357838.5:p.Val88=
ENST00000368845.5:c.264C>T	ENSP00000357838.5:p.Val88=
ENST00000476917.5:n.329C>T
ENST00000490096.5:n.500C>T
ENST00000492376.1:n.612C>T
ENST00000539214.5:c.-151C>T	ENSP00000439042.1:n.-151C>T
NM_000274.3:c.264C>T , LRG_685t1:c.264C>T	NP_000265.1:p.Val88=
NM_001171814.1:c.-151C>T	NP_001165285.1:n.-151C>T
XM_006717871.2:c.264C>T	XP_006717934.1:p.Val88=
XM_011539833.1:c.264C>T	XP_011538135.1:p.Val88=
XM_011539834.1:c.264C>T	XP_011538136.1:p.Val88=
NM_001322965.1:c.264C>T	NP_001309894.1:p.Val88=
NM_001322966.1:c.264C>T	NP_001309895.1:p.Val88=
NM_001322967.1:c.264C>T	NP_001309896.1:p.Val88=
NM_001322968.1:c.264C>T	NP_001309897.1:p.Val88=
NM_001322969.1:c.264C>T	NP_001309898.1:p.Val88=
NM_001322970.1:c.264C>T	NP_001309899.1:p.Val88=
NM_001322971.1:c.199+3072C>T	NP_001309900.1:n.199+3072C>T
NM_001322974.1:c.-451C>T	NP_001309903.1:n.-451C>T
XM_017016279.1:c.-2190C>T	XP_016871768.1:n.-2190C>T
NM_000274.4:c.264C>T MANE Select	NP_000265.1:p.Val88=
NM_001322965.2:c.264C>T	NP_001309894.1:p.Val88=
NM_001322966.2:c.264C>T	NP_001309895.1:p.Val88=
NM_001322967.2:c.264C>T	NP_001309896.1:p.Val88=
NM_001322968.2:c.264C>T	NP_001309897.1:p.Val88=
NM_001322969.2:c.264C>T	NP_001309898.1:p.Val88=
NM_001322970.2:c.264C>T	NP_001309899.1:p.Val88=
NM_001322971.2:c.199+3072C>T	NP_001309900.1:n.199+3072C>T
NM_001322974.2:c.-451C>T	NP_001309903.1:n.-451C>T
NM_001171814.2:c.-151C>T	NP_001165285.1:n.-151C>T