Canonical Allele Identifier: CA2655330870

Gene: COMT

Linked Data

• gnomAD v4: 22-19961251-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19961251C>A , CM000684.2:g.19961251C>A	GRCh38
NC_000022.10:g.19948774C>A , CM000684.1:g.19948774C>A	GRCh37
NC_000022.9:g.18328774C>A	NCBI36
NG_011526.1:g.24512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-39C>A MANE Select	ENSP00000354511.6:n.-39C>A
ENST00000428707.2:c.-39C>A	ENSP00000387695.2:n.-39C>A
ENST00000676678.1:c.-39C>A	ENSP00000503719.1:n.-39C>A
ENST00000678255.1:c.-869C>A	ENSP00000504402.1:n.-869C>A
ENST00000678769.1:c.-39C>A	ENSP00000503289.1:n.-39C>A
ENST00000678868.1:c.-39C>A	ENSP00000503583.1:n.-39C>A
ENST00000207636.9:c.-39C>A	ENSP00000207636.5:n.-39C>A
ENST00000361682.10:c.-39C>A	ENSP00000354511.6:n.-39C>A
ENST00000403184.5:c.-39C>A	ENSP00000383966.1:n.-39C>A
ENST00000403710.5:c.-333C>A	ENSP00000385917.1:n.-333C>A
ENST00000406520.7:c.-39C>A	ENSP00000385150.3:n.-39C>A
ENST00000407537.5:c.-217C>A	ENSP00000384654.2:n.-217C>A
ENST00000412786.5:c.-39C>A	ENSP00000403958.1:n.-39C>A
ENST00000467943.5:n.158C>A
NM_000754.3:c.-39C>A	NP_000745.1:n.-39C>A
NM_001135161.1:c.-39C>A	NP_001128633.1:n.-39C>A
NM_001135162.1:c.-39C>A	NP_001128634.1:n.-39C>A
XM_011529885.1:c.76C>A	XP_011528187.1:p.Gln26Lys
XM_011529886.1:c.76C>A	XP_011528188.1:p.Gln26Lys
XM_011529887.1:c.-39C>A	XP_011528189.1:n.-39C>A
XM_011529888.1:c.-39C>A	XP_011528190.1:n.-39C>A
XM_011529889.1:c.-39C>A	XP_011528191.1:n.-39C>A
XM_011529890.1:c.-333C>A	XP_011528192.1:n.-333C>A
XM_011529891.1:c.-333C>A	XP_011528193.1:n.-333C>A
NM_001362828.1:c.-333C>A	NP_001349757.1:n.-333C>A
XM_011529886.2:c.373C>A	XP_011528188.2:p.Gln125Lys
XM_017028595.1:c.-333C>A	XP_016884084.1:n.-333C>A
NM_000754.4:c.-39C>A MANE Select	NP_000745.1:n.-39C>A
NM_001135161.2:c.-39C>A	NP_001128633.1:n.-39C>A
NM_001135162.2:c.-39C>A	NP_001128634.1:n.-39C>A
NM_001362828.2:c.-333C>A	NP_001349757.1:n.-333C>A