Canonical Allele Identifier: CA410700165

Gene: COMT TXNRD2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19941793A>G , CM000684.2:g.19941793A>G	GRCh38
NC_000022.10:g.19929316A>G , CM000684.1:g.19929316A>G	GRCh37
NC_000022.9:g.18309316A>G	NCBI36
NG_011526.1:g.5054A>G
NG_011835.1:g.5044T>C , LRG_417:g.5044T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000754.4:c.-196A>G (COMT) MANE Select	NP_000745.1:n.-196A>G
NM_006440.5:c.11T>C (TXNRD2) MANE Select	NP_006431.2:p.Met4Thr
ENST00000361682.11:c.-196A>G (COMT) MANE Select	ENSP00000354511.6:n.-196A>G
ENST00000400521.7:c.11T>C (TXNRD2) MANE Select	ENSP00000383365.1:p.Met4Thr
NM_000754.3:c.-196A>G (COMT)	NP_000745.1:n.-196A>G
NM_001282512.1:c.11T>C (TXNRD2)	NP_001269441.1:p.Met4Thr
NM_001282512.2:c.11T>C (TXNRD2)	NP_001269441.1:p.Met4Thr
NM_001282512.3:c.11T>C (TXNRD2)	NP_001269441.1:p.Met4Thr
NM_001352300.1:c.11T>C (TXNRD2)	NP_001339229.1:p.Met4Thr
NM_001352300.2:c.11T>C (TXNRD2)	NP_001339229.1:p.Met4Thr
NM_001362828.1:c.-490A>G (COMT)	NP_001349757.1:n.-490A>G
NM_001362828.2:c.-490A>G (COMT)	NP_001349757.1:n.-490A>G
NM_006440.4:c.11T>C (TXNRD2)	NP_006431.2:p.Met4Thr
NR_147957.1:n.200T>C (TXNRD2)
NR_147957.2:n.26T>C (TXNRD2)
ENST00000334363.14:c.11T>C (TXNRD2)	ENSP00000334451.9:p.Met4Thr
ENST00000361682.10:c.-196A>G (COMT)	ENSP00000354511.6:n.-196A>G
ENST00000400519.6:c.11T>C (TXNRD2)	ENSP00000383363.1:p.Met4Thr
ENST00000400521.6:c.11T>C (TXNRD2)	ENSP00000383365.1:p.Met4Thr
ENST00000400525.6:c.11T>C (TXNRD2)	ENSP00000383369.3:p.Met4Thr
ENST00000403184.5:c.-196A>G (COMT)	ENSP00000383966.1:n.-196A>G
ENST00000403710.5:c.-490A>G (COMT)	ENSP00000385917.1:n.-490A>G
ENST00000407537.5:c.-374A>G (COMT)	ENSP00000384654.2:n.-374A>G
ENST00000467943.5:n.1A>G (COMT)
ENST00000474308.5:c.11T>C (TXNRD2)	ENSP00000485665.1:p.Met4Thr
ENST00000496729.2:n.16T>C (TXNRD2)
ENST00000676678.1:c.-92+218A>G (COMT)	ENSP00000503719.1:n.-92+218A>G
XM_011529887.1:c.-196A>G (COMT)	XP_011528189.1:n.-196A>G