Canonical Allele Identifier: CA400567719

Gene: ACE

Linked Data

• gnomAD v4: 17-63496957-G-A
• MyVariant Identifiers: chr17:g.61574318G>A (hg19) ; chr17:g.63496957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496957G>A , CM000679.2:g.63496957G>A	GRCh38
NC_000017.10:g.61574318G>A , CM000679.1:g.61574318G>A	GRCh37
NC_000017.9:g.58928050G>A	NCBI36
NG_011648.1:g.24885G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3663G>A MANE Select	ENSP00000290866.4:p.Trp1221Ter
ENST00000290863.10:c.1941G>A	ENSP00000290863.6:p.Trp647Ter
ENST00000290866.9:c.3663G>A	ENSP00000290866.4:p.Trp1221Ter
ENST00000413513.7:c.1818G>A	ENSP00000392247.3:p.Trp606Ter
ENST00000428043.5:c.3663G>A	ENSP00000397593.2:p.Trp1221Ter
ENST00000577418.5:n.673G>A
ENST00000577647.2:c.1941G>A	ENSP00000464149.1:p.Trp647Ter
ENST00000578839.5:c.*1418G>A	ENSP00000462110.2:n.*1418G>A
ENST00000579314.5:c.*1392G>A	ENSP00000462599.1:n.*1392G>A
ENST00000579409.1:c.350G>A
ENST00000582244.1:n.537G>A
NM_000789.3:c.3663G>A	NP_000780.1:p.Trp1221Ter
NM_001178057.1:c.1818G>A	NP_001171528.1:p.Trp606Ter
NM_152830.2:c.1941G>A	NP_690043.1:p.Trp647Ter
XM_005257110.1:c.3114G>A	XP_005257167.1:p.Trp1038Ter
XM_006721737.2:c.2001G>A	XP_006721800.2:p.Trp667Ter
XM_006721737.3:c.2001G>A	XP_006721800.2:p.Trp667Ter
NM_000789.4:c.3663G>A MANE Select	NP_000780.1:p.Trp1221Ter
NM_001178057.2:c.1818G>A	NP_001171528.1:p.Trp606Ter
NM_152830.3:c.1941G>A	NP_690043.1:p.Trp647Ter
NM_001382700.1:c.3096G>A	NP_001369629.1:p.Trp1032Ter
NM_001382701.1:c.2811G>A	NP_001369630.1:p.Trp937Ter
NM_001382702.1:c.1278G>A	NP_001369631.1:p.Trp426Ter
NR_168483.1:n.2041G>A