Canonical Allele Identifier: CA2843091825

Gene: MACO1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25442463T>C , CM000663.2:g.25442463T>C	GRCh38
NC_000001.10:g.25768954T>C , CM000663.1:g.25768954T>C	GRCh37
NC_000001.9:g.25641541T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374343.5:c.81-4299T>C MANE Select	ENSP00000363463.4:n.81-4299T>C
ENST00000647928.1:c.81-4299T>C	ENSP00000497738.1:n.81-4299T>C
ENST00000374343.4:c.81-4299T>C	ENSP00000363463.4:n.81-4299T>C
ENST00000399766.7:c.81-4299T>C	ENSP00000382668.3:n.81-4299T>C
NM_001282564.1:c.81-4299T>C	NP_001269493.1:n.81-4299T>C
NM_018202.5:c.81-4299T>C	NP_060672.2:n.81-4299T>C
XM_005245931.1:c.81-4299T>C	XP_005245988.1:n.81-4299T>C
XM_011541704.1:c.-531-4299T>C	XP_011540006.1:n.-531-4299T>C
XM_005245931.2:c.81-4299T>C	XP_005245988.1:n.81-4299T>C
XM_011541704.3:c.-531-4299T>C	XP_011540006.1:n.-531-4299T>C
NM_018202.6:c.81-4299T>C MANE Select	NP_060672.2:n.81-4299T>C
NM_001282564.2:c.81-4299T>C	NP_001269493.1:n.81-4299T>C