Canonical Allele Identifier: CA2269944975

Gene: ACE

Linked Data

• dbSNP Id: rs2029980933
• gnomAD v4: 17-63486864-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486864G>A , CM000679.2:g.63486864G>A	GRCh38
NC_000017.10:g.61564225G>A , CM000679.1:g.61564225G>A	GRCh37
NC_000017.9:g.58917957G>A	NCBI36
NG_011648.1:g.14792G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2218-122G>A MANE Select	ENSP00000290866.4:n.2218-122G>A
ENST00000290863.10:c.496-122G>A	ENSP00000290863.6:n.496-122G>A
ENST00000290866.9:c.2218-122G>A	ENSP00000290866.4:n.2218-122G>A
ENST00000413513.7:c.496-122G>A	ENSP00000392247.3:n.496-122G>A
ENST00000428043.5:c.2218-122G>A	ENSP00000397593.2:n.2218-122G>A
ENST00000577647.2:c.496-122G>A	ENSP00000464149.1:n.496-122G>A
ENST00000578839.5:c.*288-122G>A	ENSP00000462110.2:n.*288-122G>A
ENST00000579204.1:c.399-122G>A	ENSP00000464629.1:n.399-122G>A
ENST00000579314.5:c.496-122G>A	ENSP00000462599.1:n.496-122G>A
ENST00000579726.5:c.780-122G>A
ENST00000582005.5:c.*138-122G>A	ENSP00000462002.1:n.*138-122G>A
ENST00000584865.5:n.42G>A
NM_000789.3:c.2218-122G>A	NP_000780.1:n.2218-122G>A
NM_001178057.1:c.496-122G>A	NP_001171528.1:n.496-122G>A
NM_152830.2:c.496-122G>A	NP_690043.1:n.496-122G>A
XM_005257110.1:c.1669-122G>A	XP_005257167.1:n.1669-122G>A
XM_006721737.2:c.556-122G>A	XP_006721800.2:n.556-122G>A
XM_006721737.3:c.556-122G>A	XP_006721800.2:n.556-122G>A
NM_000789.4:c.2218-122G>A MANE Select	NP_000780.1:n.2218-122G>A
NM_001178057.2:c.496-122G>A	NP_001171528.1:n.496-122G>A
NM_152830.3:c.496-122G>A	NP_690043.1:n.496-122G>A
NM_001382700.1:c.1651-122G>A	NP_001369629.1:n.1651-122G>A
NM_001382701.1:c.1366-122G>A	NP_001369630.1:n.1366-122G>A
NM_001382702.1:c.148-122G>A	NP_001369631.1:n.148-122G>A
NR_168483.1:n.518-122G>A