Canonical Allele Identifier: CA734405576

Gene: MACO1

Linked Data

• dbSNP Id: rs1354505911
• gnomAD v3: 1-25449174-T-G
• gnomAD v4: 1-25449174-T-G
• MyVariant Identifiers: chr1:g.25775665T>G (hg19) ; chr1:g.25449174T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25449174T>G , CM000663.2:g.25449174T>G	GRCh38
NC_000001.10:g.25775665T>G , CM000663.1:g.25775665T>G	GRCh37
NC_000001.9:g.25648252T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374343.5:c.349+240T>G MANE Select	ENSP00000363463.4:n.349+240T>G
ENST00000647928.1:c.349+240T>G	ENSP00000497738.1:n.349+240T>G
ENST00000374343.4:c.349+240T>G	ENSP00000363463.4:n.349+240T>G
ENST00000399766.7:c.349+240T>G	ENSP00000382668.3:n.349+240T>G
ENST00000470035.1:n.42+240T>G
NM_001282564.1:c.349+240T>G	NP_001269493.1:n.349+240T>G
NM_018202.5:c.349+240T>G	NP_060672.2:n.349+240T>G
XM_005245931.1:c.349+240T>G	XP_005245988.1:n.349+240T>G
XM_011541704.1:c.-263+240T>G	XP_011540006.1:n.-263+240T>G
XM_005245931.2:c.349+240T>G	XP_005245988.1:n.349+240T>G
XM_011541704.3:c.-263+240T>G	XP_011540006.1:n.-263+240T>G
NM_018202.6:c.349+240T>G MANE Select	NP_060672.2:n.349+240T>G
NM_001282564.2:c.349+240T>G	NP_001269493.1:n.349+240T>G