Canonical Allele Identifier: CA501342446

Gene: ACE

Linked Data

• gnomAD v4: 17-63496942-G-A
• COSMIC: COSM5577925 ; COSM5577926 ; COSM5577927
• MyVariant Identifiers: chr17:g.61574303G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496942G>A , CM000679.2:g.63496942G>A	GRCh38
NC_000017.10:g.61574303G>A , CM000679.1:g.61574303G>A	GRCh37
NC_000017.9:g.58928035G>A	NCBI36
NG_011648.1:g.24870G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3648G>A MANE Select	ENSP00000290866.4:p.Gly1216=
ENST00000290863.10:c.1926G>A	ENSP00000290863.6:p.Gly642=
ENST00000290866.9:c.3648G>A	ENSP00000290866.4:p.Gly1216=
ENST00000413513.7:c.1803G>A	ENSP00000392247.3:p.Gly601=
ENST00000428043.5:c.3648G>A	ENSP00000397593.2:p.Gly1216=
ENST00000577418.5:n.658G>A
ENST00000577647.2:c.1926G>A	ENSP00000464149.1:p.Gly642=
ENST00000578839.5:c.*1403G>A	ENSP00000462110.2:n.*1403G>A
ENST00000579314.5:c.*1377G>A	ENSP00000462599.1:n.*1377G>A
ENST00000579409.1:c.335G>A
ENST00000582244.1:n.522G>A
NM_000789.3:c.3648G>A	NP_000780.1:p.Gly1216=
NM_001178057.1:c.1803G>A	NP_001171528.1:p.Gly601=
NM_152830.2:c.1926G>A	NP_690043.1:p.Gly642=
XM_005257110.1:c.3099G>A	XP_005257167.1:p.Gly1033=
XM_006721737.2:c.1986G>A	XP_006721800.2:p.Gly662=
XM_006721737.3:c.1986G>A	XP_006721800.2:p.Gly662=
NM_000789.4:c.3648G>A MANE Select	NP_000780.1:p.Gly1216=
NM_001178057.2:c.1803G>A	NP_001171528.1:p.Gly601=
NM_152830.3:c.1926G>A	NP_690043.1:p.Gly642=
NM_001382700.1:c.3081G>A	NP_001369629.1:p.Gly1027=
NM_001382701.1:c.2796G>A	NP_001369630.1:p.Gly932=
NM_001382702.1:c.1263G>A	NP_001369631.1:p.Gly421=
NR_168483.1:n.2026G>A