Canonical Allele Identifier: CA626846406

Gene: ACE

Linked Data

• dbSNP Id: rs1321445998
• gnomAD v2: 17-61575285-C-G
• gnomAD v3: 17-63497924-C-G
• gnomAD v4: 17-63497924-C-G
• MyVariant Identifiers: chr17:g.61575285C>G (hg19) ; chr17:g.63497924C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497924C>G , CM000679.2:g.63497924C>G	GRCh38
NC_000017.10:g.61575285C>G , CM000679.1:g.61575285C>G	GRCh37
NC_000017.9:g.58929017C>G	NCBI36
NG_011648.1:g.25852C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*558C>G MANE Select	ENSP00000290866.4:n.*558C>G
ENST00000290866.9:c.*558C>G	ENSP00000290866.4:n.*558C>G
ENST00000428043.5:c.*901C>G	ENSP00000397593.2:n.*901C>G
ENST00000577647.2:c.1969+939C>G	ENSP00000464149.1:n.1969+939C>G
NM_000789.3:c.*558C>G	NP_000780.1:n.*558C>G
NM_001178057.1:c.*558C>G	NP_001171528.1:n.*558C>G
NM_152830.2:c.*558C>G	NP_690043.1:n.*558C>G
XM_005257110.1:c.*558C>G	XP_005257167.1:n.*558C>G
XM_006721737.2:c.*558C>G	XP_006721800.2:n.*558C>G
NM_000789.4:c.*558C>G MANE Select	NP_000780.1:n.*558C>G
NM_001178057.2:c.*558C>G	NP_001171528.1:n.*558C>G
NM_152830.3:c.*558C>G	NP_690043.1:n.*558C>G
NM_001382700.1:c.*558C>G	NP_001369629.1:n.*558C>G
NM_001382701.1:c.*558C>G	NP_001369630.1:n.*558C>G
NM_001382702.1:c.*558C>G	NP_001369631.1:n.*558C>G
NR_168483.1:n.2857C>G