Canonical Allele Identifier: CA400556219

Gene: ACE

Linked Data

• gnomAD v4: 17-63486672-A-G
• MyVariant Identifiers: chr17:g.61564033A>G (hg19) ; chr17:g.63486672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486672A>G , CM000679.2:g.63486672A>G	GRCh38
NC_000017.10:g.61564033A>G , CM000679.1:g.61564033A>G	GRCh37
NC_000017.9:g.58917765A>G	NCBI36
NG_011648.1:g.14600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2174A>G MANE Select	ENSP00000290866.4:p.Gln725Arg
ENST00000290863.10:c.452A>G	ENSP00000290863.6:p.Gln151Arg
ENST00000290866.9:c.2174A>G	ENSP00000290866.4:p.Gln725Arg
ENST00000413513.7:c.452A>G	ENSP00000392247.3:p.Gln151Arg
ENST00000428043.5:c.2174A>G	ENSP00000397593.2:p.Gln725Arg
ENST00000577647.2:c.452A>G	ENSP00000464149.1:p.Gln151Arg
ENST00000578839.5:c.*244A>G	ENSP00000462110.2:n.*244A>G
ENST00000579204.1:c.355A>G	ENSP00000464629.1:n.355A>G
ENST00000579314.5:c.452A>G	ENSP00000462599.1:p.Gln151Arg
ENST00000579726.5:c.736A>G
ENST00000582005.5:c.*94A>G	ENSP00000462002.1:n.*94A>G
NM_000789.3:c.2174A>G	NP_000780.1:p.Gln725Arg
NM_001178057.1:c.452A>G	NP_001171528.1:p.Gln151Arg
NM_152830.2:c.452A>G	NP_690043.1:p.Gln151Arg
XM_005257110.1:c.1625A>G	XP_005257167.1:p.Gln542Arg
XM_006721737.2:c.512A>G	XP_006721800.2:p.Gln171Arg
XM_006721737.3:c.512A>G	XP_006721800.2:p.Gln171Arg
NM_000789.4:c.2174A>G MANE Select	NP_000780.1:p.Gln725Arg
NM_001178057.2:c.452A>G	NP_001171528.1:p.Gln151Arg
NM_152830.3:c.452A>G	NP_690043.1:p.Gln151Arg
NM_001382700.1:c.1607A>G	NP_001369629.1:p.Gln536Arg
NM_001382701.1:c.1322A>G	NP_001369630.1:p.Gln441Arg
NM_001382702.1:c.104A>G	NP_001369631.1:p.Gln35Arg
NR_168483.1:n.474A>G