Canonical Allele Identifier: CA400549216

Gene: ACE

Linked Data

• gnomAD v4: 17-63482518-G-A
• MyVariant Identifiers: chr17:g.61559879G>A (hg19) ; chr17:g.63482518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482518G>A , CM000679.2:g.63482518G>A	GRCh38
NC_000017.10:g.61559879G>A , CM000679.1:g.61559879G>A	GRCh37
NC_000017.9:g.58913611G>A	NCBI36
NG_011648.1:g.10446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1171G>A MANE Select	ENSP00000290866.4:p.Glu391Lys
ENST00000290866.9:c.1171G>A	ENSP00000290866.4:p.Glu391Lys
ENST00000428043.5:c.1171G>A	ENSP00000397593.2:p.Glu391Lys
ENST00000582678.5:c.*570G>A	ENSP00000462995.1:n.*570G>A
ENST00000584529.5:n.1205G>A
NM_000789.3:c.1171G>A	NP_000780.1:p.Glu391Lys
XM_005257110.1:c.622G>A	XP_005257167.1:p.Glu208Lys
NM_000789.4:c.1171G>A MANE Select	NP_000780.1:p.Glu391Lys
NM_001382700.1:c.604G>A	NP_001369629.1:p.Glu202Lys
NM_001382701.1:c.319G>A	NP_001369630.1:p.Glu107Lys