Canonical Allele Identifier: CA8699436

Gene: ACE

Linked Data

• dbSNP Id: rs548450663
• ExAC: 17:61559907 A / G
• gnomAD v2: 17-61559907-A-G
• gnomAD v3: 17-63482546-A-G
• gnomAD v4: 17-63482546-A-G
• MyVariant Identifiers: chr17:g.61559907A>G (hg19) ; chr17:g.63482546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482546A>G , CM000679.2:g.63482546A>G	GRCh38
NC_000017.10:g.61559907A>G , CM000679.1:g.61559907A>G	GRCh37
NC_000017.9:g.58913639A>G	NCBI36
NG_011648.1:g.10474A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1199A>G MANE Select	ENSP00000290866.4:p.Gln400Arg
ENST00000290866.9:c.1199A>G	ENSP00000290866.4:p.Gln400Arg
ENST00000428043.5:c.1199A>G	ENSP00000397593.2:p.Gln400Arg
ENST00000582678.5:c.*598A>G	ENSP00000462995.1:n.*598A>G
ENST00000584529.5:n.1233A>G
NM_000789.3:c.1199A>G	NP_000780.1:p.Gln400Arg
XM_005257110.1:c.650A>G	XP_005257167.1:p.Gln217Arg
NM_000789.4:c.1199A>G MANE Select	NP_000780.1:p.Gln400Arg
NM_001382700.1:c.632A>G	NP_001369629.1:p.Gln211Arg
NM_001382701.1:c.347A>G	NP_001369630.1:p.Gln116Arg