Canonical Allele Identifier: CA292890964

Gene: ACE

Linked Data

• ClinVar Variation Id: 891270
• ClinVar RCV Id: RCV001126452
• dbSNP Id: rs78716020
• gnomAD v2: 17-61575621-G-A
• gnomAD v3: 17-63498260-G-A
• gnomAD v4: 17-63498260-G-A
• MyVariant Identifiers: chr17:g.61575621G>A (hg19) ; chr17:g.63498260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498260G>A , CM000679.2:g.63498260G>A	GRCh38
NC_000017.10:g.61575621G>A , CM000679.1:g.61575621G>A	GRCh37
NC_000017.9:g.58929353G>A	NCBI36
NG_011648.1:g.26188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*894G>A MANE Select	ENSP00000290866.4:n.*894G>A
ENST00000290866.9:c.*894G>A	ENSP00000290866.4:n.*894G>A
ENST00000428043.5:c.*1237G>A	ENSP00000397593.2:n.*1237G>A
ENST00000577647.2:c.1969+1275G>A	ENSP00000464149.1:n.1969+1275G>A
NM_000789.3:c.*894G>A	NP_000780.1:n.*894G>A
NM_001178057.1:c.*894G>A	NP_001171528.1:n.*894G>A
NM_152830.2:c.*894G>A	NP_690043.1:n.*894G>A
XM_005257110.1:c.*894G>A	XP_005257167.1:n.*894G>A
XM_006721737.2:c.*894G>A	XP_006721800.2:n.*894G>A
NM_000789.4:c.*894G>A MANE Select	NP_000780.1:n.*894G>A
NM_001178057.2:c.*894G>A	NP_001171528.1:n.*894G>A
NM_152830.3:c.*894G>A	NP_690043.1:n.*894G>A
NM_001382700.1:c.*894G>A	NP_001369629.1:n.*894G>A
NM_001382701.1:c.*894G>A	NP_001369630.1:n.*894G>A
NM_001382702.1:c.*894G>A	NP_001369631.1:n.*894G>A
NR_168483.1:n.3193G>A