Canonical Allele Identifier: CA292877425

Gene: ACE

Linked Data

• dbSNP Id: rs967402911
• gnomAD v4: 17-63483340-G-A
• MyVariant Identifiers: chr17:g.61560701G>A (hg19) ; chr17:g.63483340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483340G>A , CM000679.2:g.63483340G>A	GRCh38
NC_000017.10:g.61560701G>A , CM000679.1:g.61560701G>A	GRCh37
NC_000017.9:g.58914433G>A	NCBI36
NG_011648.1:g.11268G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1488-120G>A MANE Select	ENSP00000290866.4:n.1488-120G>A
ENST00000290866.9:c.1488-120G>A	ENSP00000290866.4:n.1488-120G>A
ENST00000428043.5:c.1488-120G>A	ENSP00000397593.2:n.1488-120G>A
ENST00000582678.5:c.*887-120G>A	ENSP00000462995.1:n.*887-120G>A
ENST00000584529.5:n.1377-120G>A
NM_000789.3:c.1488-120G>A	NP_000780.1:n.1488-120G>A
XM_005257110.1:c.939-120G>A	XP_005257167.1:n.939-120G>A
NM_000789.4:c.1488-120G>A MANE Select	NP_000780.1:n.1488-120G>A
NM_001382700.1:c.921-120G>A	NP_001369629.1:n.921-120G>A
NM_001382701.1:c.636-120G>A	NP_001369630.1:n.636-120G>A