Canonical Allele Identifier: CA292890743

Gene: ACE

Linked Data

• dbSNP Id: rs890419833
• gnomAD v4: 17-63497918-G-A
• MyVariant Identifiers: chr17:g.61575279G>A (hg19) ; chr17:g.63497918G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497918G>A , CM000679.2:g.63497918G>A	GRCh38
NC_000017.10:g.61575279G>A , CM000679.1:g.61575279G>A	GRCh37
NC_000017.9:g.58929011G>A	NCBI36
NG_011648.1:g.25846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*552G>A MANE Select	ENSP00000290866.4:n.*552G>A
ENST00000290866.9:c.*552G>A	ENSP00000290866.4:n.*552G>A
ENST00000428043.5:c.*895G>A	ENSP00000397593.2:n.*895G>A
ENST00000577647.2:c.1969+933G>A	ENSP00000464149.1:n.1969+933G>A
NM_000789.3:c.*552G>A	NP_000780.1:n.*552G>A
NM_001178057.1:c.*552G>A	NP_001171528.1:n.*552G>A
NM_152830.2:c.*552G>A	NP_690043.1:n.*552G>A
XM_005257110.1:c.*552G>A	XP_005257167.1:n.*552G>A
XM_006721737.2:c.*552G>A	XP_006721800.2:n.*552G>A
NM_000789.4:c.*552G>A MANE Select	NP_000780.1:n.*552G>A
NM_001178057.2:c.*552G>A	NP_001171528.1:n.*552G>A
NM_152830.3:c.*552G>A	NP_690043.1:n.*552G>A
NM_001382700.1:c.*552G>A	NP_001369629.1:n.*552G>A
NM_001382701.1:c.*552G>A	NP_001369630.1:n.*552G>A
NM_001382702.1:c.*552G>A	NP_001369631.1:n.*552G>A
NR_168483.1:n.2851G>A