Canonical Allele Identifier: CA501184453

Gene: ACE

Linked Data

• gnomAD v4: 17-63486670-T-A
• MyVariant Identifiers: chr17:g.61564031T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486670T>A , CM000679.2:g.63486670T>A	GRCh38
NC_000017.10:g.61564031T>A , CM000679.1:g.61564031T>A	GRCh37
NC_000017.9:g.58917763T>A	NCBI36
NG_011648.1:g.14598T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2172T>A MANE Select	ENSP00000290866.4:p.Val724=
ENST00000290863.10:c.450T>A	ENSP00000290863.6:p.Val150=
ENST00000290866.9:c.2172T>A	ENSP00000290866.4:p.Val724=
ENST00000413513.7:c.450T>A	ENSP00000392247.3:p.Val150=
ENST00000428043.5:c.2172T>A	ENSP00000397593.2:p.Val724=
ENST00000577647.2:c.450T>A	ENSP00000464149.1:p.Val150=
ENST00000578839.5:c.*242T>A	ENSP00000462110.2:n.*242T>A
ENST00000579204.1:c.353T>A	ENSP00000464629.1:n.353T>A
ENST00000579314.5:c.450T>A	ENSP00000462599.1:p.Val150=
ENST00000579726.5:c.734T>A
ENST00000582005.5:c.*92T>A	ENSP00000462002.1:n.*92T>A
NM_000789.3:c.2172T>A	NP_000780.1:p.Val724=
NM_001178057.1:c.450T>A	NP_001171528.1:p.Val150=
NM_152830.2:c.450T>A	NP_690043.1:p.Val150=
XM_005257110.1:c.1623T>A	XP_005257167.1:p.Val541=
XM_006721737.2:c.510T>A	XP_006721800.2:p.Val170=
XM_006721737.3:c.510T>A	XP_006721800.2:p.Val170=
NM_000789.4:c.2172T>A MANE Select	NP_000780.1:p.Val724=
NM_001178057.2:c.450T>A	NP_001171528.1:p.Val150=
NM_152830.3:c.450T>A	NP_690043.1:p.Val150=
NM_001382700.1:c.1605T>A	NP_001369629.1:p.Val535=
NM_001382701.1:c.1320T>A	NP_001369630.1:p.Val440=
NM_001382702.1:c.102T>A	NP_001369631.1:p.Val34=
NR_168483.1:n.472T>A