Canonical Allele Identifier: CA19453502

Gene: MACO1

Linked Data

• dbSNP Id: rs953024857
• gnomAD v3: 1-25442495-G-C
• gnomAD v4: 1-25442495-G-C
• MyVariant Identifiers: chr1:g.25768986G>C (hg19) ; chr1:g.25442495G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25442495G>C , CM000663.2:g.25442495G>C	GRCh38
NC_000001.10:g.25768986G>C , CM000663.1:g.25768986G>C	GRCh37
NC_000001.9:g.25641573G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374343.5:c.81-4267G>C MANE Select	ENSP00000363463.4:n.81-4267G>C
ENST00000647928.1:c.81-4267G>C	ENSP00000497738.1:n.81-4267G>C
ENST00000374343.4:c.81-4267G>C	ENSP00000363463.4:n.81-4267G>C
ENST00000399766.7:c.81-4267G>C	ENSP00000382668.3:n.81-4267G>C
NM_001282564.1:c.81-4267G>C	NP_001269493.1:n.81-4267G>C
NM_018202.5:c.81-4267G>C	NP_060672.2:n.81-4267G>C
XM_005245931.1:c.81-4267G>C	XP_005245988.1:n.81-4267G>C
XM_011541704.1:c.-531-4267G>C	XP_011540006.1:n.-531-4267G>C
XM_005245931.2:c.81-4267G>C	XP_005245988.1:n.81-4267G>C
XM_011541704.3:c.-531-4267G>C	XP_011540006.1:n.-531-4267G>C
NM_018202.6:c.81-4267G>C MANE Select	NP_060672.2:n.81-4267G>C
NM_001282564.2:c.81-4267G>C	NP_001269493.1:n.81-4267G>C