Canonical Allele Identifier: CA292890370

Gene: ACE

Linked Data

• dbSNP Id: rs560218404
• gnomAD v2: 17-61574468-G-A
• gnomAD v3: 17-63497107-G-A
• gnomAD v4: 17-63497107-G-A
• MyVariant Identifiers: chr17:g.61574468G>A (hg19) ; chr17:g.63497107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497107G>A , CM000679.2:g.63497107G>A	GRCh38
NC_000017.10:g.61574468G>A , CM000679.1:g.61574468G>A	GRCh37
NC_000017.9:g.58928200G>A	NCBI36
NG_011648.1:g.25035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3692-30G>A MANE Select	ENSP00000290866.4:n.3692-30G>A
ENST00000290863.10:c.1970-30G>A	ENSP00000290863.6:n.1970-30G>A
ENST00000290866.9:c.3692-30G>A	ENSP00000290866.4:n.3692-30G>A
ENST00000413513.7:c.1847-30G>A	ENSP00000392247.3:n.1847-30G>A
ENST00000428043.5:c.*84G>A	ENSP00000397593.2:n.*84G>A
ENST00000577418.5:n.702-30G>A
ENST00000577647.2:c.1969+122G>A	ENSP00000464149.1:n.1969+122G>A
ENST00000578839.5:c.*1447-30G>A	ENSP00000462110.2:n.*1447-30G>A
ENST00000579314.5:c.*1421-30G>A	ENSP00000462599.1:n.*1421-30G>A
ENST00000579409.1:c.500G>A
NM_000789.3:c.3692-30G>A	NP_000780.1:n.3692-30G>A
NM_001178057.1:c.1847-30G>A	NP_001171528.1:n.1847-30G>A
NM_152830.2:c.1970-30G>A	NP_690043.1:n.1970-30G>A
XM_005257110.1:c.3143-30G>A	XP_005257167.1:n.3143-30G>A
XM_006721737.2:c.2030-30G>A	XP_006721800.2:n.2030-30G>A
XM_006721737.3:c.2030-30G>A	XP_006721800.2:n.2030-30G>A
NM_000789.4:c.3692-30G>A MANE Select	NP_000780.1:n.3692-30G>A
NM_001178057.2:c.1847-30G>A	NP_001171528.1:n.1847-30G>A
NM_152830.3:c.1970-30G>A	NP_690043.1:n.1970-30G>A
NM_001382700.1:c.3125-30G>A	NP_001369629.1:n.3125-30G>A
NM_001382701.1:c.2840-30G>A	NP_001369630.1:n.2840-30G>A
NM_001382702.1:c.1307-30G>A	NP_001369631.1:n.1307-30G>A
NR_168483.1:n.2070-30G>A