Canonical Allele Identifier: CA378636227

Gene: OAT

Linked Data

• gnomAD v4: 10-124405464-A-G
• MyVariant Identifiers: chr10:g.126094033A>G (hg19) ; chr10:g.124405464A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124405464A>G , CM000672.2:g.124405464A>G	GRCh38
NC_000010.10:g.126094033A>G , CM000672.1:g.126094033A>G	GRCh37
NC_000010.9:g.126084023A>G	NCBI36
NG_008861.1:g.18487T>C , LRG_685:g.18487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.620T>C MANE Select	ENSP00000357838.5:p.Ile207Thr
ENST00000368845.5:c.620T>C	ENSP00000357838.5:p.Ile207Thr
ENST00000467675.5:n.421T>C
ENST00000483711.1:n.466T>C
ENST00000539214.5:c.206T>C	ENSP00000439042.1:p.Ile69Thr
NM_000274.3:c.620T>C , LRG_685t1:c.620T>C	NP_000265.1:p.Ile207Thr
NM_001171814.1:c.206T>C	NP_001165285.1:p.Ile69Thr
XM_006717871.2:c.620T>C	XP_006717934.1:p.Ile207Thr
XM_011539833.1:c.620T>C	XP_011538135.1:p.Ile207Thr
XM_011539834.1:c.620T>C	XP_011538136.1:p.Ile207Thr
NM_001322965.1:c.620T>C	NP_001309894.1:p.Ile207Thr
NM_001322966.1:c.620T>C	NP_001309895.1:p.Ile207Thr
NM_001322967.1:c.620T>C	NP_001309896.1:p.Ile207Thr
NM_001322968.1:c.620T>C	NP_001309897.1:p.Ile207Thr
NM_001322969.1:c.620T>C	NP_001309898.1:p.Ile207Thr
NM_001322970.1:c.620T>C	NP_001309899.1:p.Ile207Thr
NM_001322971.1:c.299T>C	NP_001309900.1:p.Ile100Thr
NM_001322974.1:c.20T>C	NP_001309903.1:p.Ile7Thr
XM_017016279.1:c.20T>C	XP_016871768.1:p.Ile7Thr
NM_000274.4:c.620T>C MANE Select	NP_000265.1:p.Ile207Thr
NM_001322965.2:c.620T>C	NP_001309894.1:p.Ile207Thr
NM_001322966.2:c.620T>C	NP_001309895.1:p.Ile207Thr
NM_001322967.2:c.620T>C	NP_001309896.1:p.Ile207Thr
NM_001322968.2:c.620T>C	NP_001309897.1:p.Ile207Thr
NM_001322969.2:c.620T>C	NP_001309898.1:p.Ile207Thr
NM_001322970.2:c.620T>C	NP_001309899.1:p.Ile207Thr
NM_001322971.2:c.299T>C	NP_001309900.1:p.Ile100Thr
NM_001322974.2:c.20T>C	NP_001309903.1:p.Ile7Thr
NM_001171814.2:c.206T>C	NP_001165285.1:p.Ile69Thr