Canonical Allele Identifier: CA2589500908

Gene: COMT

Linked Data

• dbSNP Id: rs2146122439
• gnomAD v3: 22-19942563-T-A
• gnomAD v4: 22-19942563-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19942563T>A , CM000684.2:g.19942563T>A	GRCh38
NC_000022.10:g.19930086T>A , CM000684.1:g.19930086T>A	GRCh37
NC_000022.9:g.18310086T>A	NCBI36
NG_011526.1:g.5824T>A
NG_011835.1:g.4274A>T , LRG_417:g.4274A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.-92+666T>A MANE Select	ENSP00000354511.6:n.-92+666T>A
ENST00000428707.2:c.-92+666T>A	ENSP00000387695.2:n.-92+666T>A
ENST00000676678.1:c.-92+988T>A	ENSP00000503719.1:n.-92+988T>A
ENST00000678769.1:c.-92+666T>A	ENSP00000503289.1:n.-92+666T>A
ENST00000678868.1:c.-276+666T>A	ENSP00000503583.1:n.-276+666T>A
ENST00000361682.10:c.-92+666T>A	ENSP00000354511.6:n.-92+666T>A
ENST00000403184.5:c.-92+666T>A	ENSP00000383966.1:n.-92+666T>A
ENST00000403710.5:c.-386+666T>A	ENSP00000385917.1:n.-386+666T>A
ENST00000407537.5:c.-270+666T>A	ENSP00000384654.2:n.-270+666T>A
ENST00000467943.5:n.105+666T>A
NM_000754.3:c.-92+666T>A	NP_000745.1:n.-92+666T>A
XM_011529887.1:c.-92+666T>A	XP_011528189.1:n.-92+666T>A
XM_011529890.1:c.-386+666T>A	XP_011528192.1:n.-386+666T>A
XM_011529891.1:c.-386+388T>A	XP_011528193.1:n.-386+388T>A
NM_001362828.1:c.-386+666T>A	NP_001349757.1:n.-386+666T>A
XM_017028595.1:c.-386+388T>A	XP_016884084.1:n.-386+388T>A
NM_000754.4:c.-92+666T>A MANE Select	NP_000745.1:n.-92+666T>A
NM_001362828.2:c.-386+666T>A	NP_001349757.1:n.-386+666T>A