Canonical Allele Identifier: CA2742880068

Gene: MACO1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25449160G>A , CM000663.2:g.25449160G>A	GRCh38
NC_000001.10:g.25775651G>A , CM000663.1:g.25775651G>A	GRCh37
NC_000001.9:g.25648238G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374343.5:c.349+226G>A MANE Select	ENSP00000363463.4:n.349+226G>A
ENST00000647928.1:c.349+226G>A	ENSP00000497738.1:n.349+226G>A
ENST00000374343.4:c.349+226G>A	ENSP00000363463.4:n.349+226G>A
ENST00000399766.7:c.349+226G>A	ENSP00000382668.3:n.349+226G>A
ENST00000470035.1:n.42+226G>A
NM_001282564.1:c.349+226G>A	NP_001269493.1:n.349+226G>A
NM_018202.5:c.349+226G>A	NP_060672.2:n.349+226G>A
XM_005245931.1:c.349+226G>A	XP_005245988.1:n.349+226G>A
XM_011541704.1:c.-263+226G>A	XP_011540006.1:n.-263+226G>A
XM_005245931.2:c.349+226G>A	XP_005245988.1:n.349+226G>A
XM_011541704.3:c.-263+226G>A	XP_011540006.1:n.-263+226G>A
NM_018202.6:c.349+226G>A MANE Select	NP_060672.2:n.349+226G>A
NM_001282564.2:c.349+226G>A	NP_001269493.1:n.349+226G>A