Canonical Allele Identifier: CA999736219

Gene: MACO1

Linked Data

• dbSNP Id: rs2042981446
• gnomAD v3: 1-25442503-G-A
• gnomAD v4: 1-25442503-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25442503G>A , CM000663.2:g.25442503G>A	GRCh38
NC_000001.10:g.25768994G>A , CM000663.1:g.25768994G>A	GRCh37
NC_000001.9:g.25641581G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374343.5:c.81-4259G>A MANE Select	ENSP00000363463.4:n.81-4259G>A
ENST00000647928.1:c.81-4259G>A	ENSP00000497738.1:n.81-4259G>A
ENST00000374343.4:c.81-4259G>A	ENSP00000363463.4:n.81-4259G>A
ENST00000399766.7:c.81-4259G>A	ENSP00000382668.3:n.81-4259G>A
NM_001282564.1:c.81-4259G>A	NP_001269493.1:n.81-4259G>A
NM_018202.5:c.81-4259G>A	NP_060672.2:n.81-4259G>A
XM_005245931.1:c.81-4259G>A	XP_005245988.1:n.81-4259G>A
XM_011541704.1:c.-531-4259G>A	XP_011540006.1:n.-531-4259G>A
XM_005245931.2:c.81-4259G>A	XP_005245988.1:n.81-4259G>A
XM_011541704.3:c.-531-4259G>A	XP_011540006.1:n.-531-4259G>A
NM_018202.6:c.81-4259G>A MANE Select	NP_060672.2:n.81-4259G>A
NM_001282564.2:c.81-4259G>A	NP_001269493.1:n.81-4259G>A