Canonical Allele Identifier: CA400557883

Gene: ACE

Linked Data

• gnomAD v4: 17-63488695-T-A
• MyVariant Identifiers: chr17:g.61566056T>A (hg19) ; chr17:g.63488695T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488695T>A , CM000679.2:g.63488695T>A	GRCh38
NC_000017.10:g.61566056T>A , CM000679.1:g.61566056T>A	GRCh37
NC_000017.9:g.58919788T>A	NCBI36
NG_011648.1:g.16623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2353T>A MANE Select	ENSP00000290866.4:p.Trp785Arg
ENST00000290863.10:c.631T>A	ENSP00000290863.6:p.Trp211Arg
ENST00000290866.9:c.2353T>A	ENSP00000290866.4:p.Trp785Arg
ENST00000413513.7:c.631T>A	ENSP00000392247.3:p.Trp211Arg
ENST00000428043.5:c.2353T>A	ENSP00000397593.2:p.Trp785Arg
ENST00000577647.2:c.631T>A	ENSP00000464149.1:p.Trp211Arg
ENST00000578839.5:c.*423T>A	ENSP00000462110.2:n.*423T>A
ENST00000579204.1:c.612T>A	ENSP00000464629.1:n.612T>A
ENST00000579314.5:c.*82T>A	ENSP00000462599.1:n.*82T>A
ENST00000582005.5:c.*273T>A	ENSP00000462002.1:n.*273T>A
ENST00000582761.1:c.121T>A	ENSP00000462909.1:p.Trp41Arg
ENST00000584865.5:n.299T>A
NM_000789.3:c.2353T>A	NP_000780.1:p.Trp785Arg
NM_001178057.1:c.631T>A	NP_001171528.1:p.Trp211Arg
NM_152830.2:c.631T>A	NP_690043.1:p.Trp211Arg
XM_005257110.1:c.1804T>A	XP_005257167.1:p.Trp602Arg
XM_006721737.2:c.691T>A	XP_006721800.2:p.Trp231Arg
XM_006721737.3:c.691T>A	XP_006721800.2:p.Trp231Arg
NM_000789.4:c.2353T>A MANE Select	NP_000780.1:p.Trp785Arg
NM_001178057.2:c.631T>A	NP_001171528.1:p.Trp211Arg
NM_152830.3:c.631T>A	NP_690043.1:p.Trp211Arg
NM_001382700.1:c.1786T>A	NP_001369629.1:p.Trp596Arg
NM_001382701.1:c.1501T>A	NP_001369630.1:p.Trp501Arg
NM_001382702.1:c.283T>A	NP_001369631.1:p.Trp95Arg
NR_168483.1:n.731T>A