Canonical Allele Identifier: CA501342321

Gene: ACE

Linked Data

• gnomAD v4: 17-63497204-G-A
• MyVariant Identifiers: chr17:g.61574565G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497204G>A , CM000679.2:g.63497204G>A	GRCh38
NC_000017.10:g.61574565G>A , CM000679.1:g.61574565G>A	GRCh37
NC_000017.9:g.58928297G>A	NCBI36
NG_011648.1:g.25132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3759G>A MANE Select	ENSP00000290866.4:p.Gln1253=
ENST00000290863.10:c.2037G>A	ENSP00000290863.6:p.Gln679=
ENST00000290866.9:c.3759G>A	ENSP00000290866.4:p.Gln1253=
ENST00000413513.7:c.1914G>A	ENSP00000392247.3:p.Gln638=
ENST00000428043.5:c.*181G>A	ENSP00000397593.2:n.*181G>A
ENST00000577647.2:c.1969+219G>A	ENSP00000464149.1:n.1969+219G>A
ENST00000578839.5:c.*1514G>A	ENSP00000462110.2:n.*1514G>A
ENST00000579314.5:c.*1488G>A	ENSP00000462599.1:n.*1488G>A
NM_000789.3:c.3759G>A	NP_000780.1:p.Gln1253=
NM_001178057.1:c.1914G>A	NP_001171528.1:p.Gln638=
NM_152830.2:c.2037G>A	NP_690043.1:p.Gln679=
XM_005257110.1:c.3210G>A	XP_005257167.1:p.Gln1070=
XM_006721737.2:c.2097G>A	XP_006721800.2:p.Gln699=
XM_006721737.3:c.2097G>A	XP_006721800.2:p.Gln699=
NM_000789.4:c.3759G>A MANE Select	NP_000780.1:p.Gln1253=
NM_001178057.2:c.1914G>A	NP_001171528.1:p.Gln638=
NM_152830.3:c.2037G>A	NP_690043.1:p.Gln679=
NM_001382700.1:c.3192G>A	NP_001369629.1:p.Gln1064=
NM_001382701.1:c.2907G>A	NP_001369630.1:p.Gln969=
NM_001382702.1:c.1374G>A	NP_001369631.1:p.Gln458=
NR_168483.1:n.2137G>A