Canonical Allele Identifier: CA19453512
Gene: MACO1 HGNC NCBI

Linked Data

dbSNP Id: rs982078746

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25442513G>A , CM000663.2:g.25442513G>A GRCh38
NC_000001.10:g.25769004G>A , CM000663.1:g.25769004G>A GRCh37
NC_000001.9:g.25641591G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374343.5:c.81-4249G>A MANE Select ENSP00000363463.4:n.81-4249G>A
ENST00000647928.1:c.81-4249G>A ENSP00000497738.1:n.81-4249G>A
ENST00000374343.4:c.81-4249G>A ENSP00000363463.4:n.81-4249G>A
ENST00000399766.7:c.81-4249G>A ENSP00000382668.3:n.81-4249G>A
NM_001282564.1:c.81-4249G>A NP_001269493.1:n.81-4249G>A
NM_018202.5:c.81-4249G>A NP_060672.2:n.81-4249G>A
XM_005245931.1:c.81-4249G>A XP_005245988.1:n.81-4249G>A
XM_011541704.1:c.-531-4249G>A XP_011540006.1:n.-531-4249G>A
XM_005245931.2:c.81-4249G>A XP_005245988.1:n.81-4249G>A
XM_011541704.3:c.-531-4249G>A XP_011540006.1:n.-531-4249G>A
NM_018202.6:c.81-4249G>A MANE Select NP_060672.2:n.81-4249G>A
NM_001282564.2:c.81-4249G>A NP_001269493.1:n.81-4249G>A