Canonical Allele Identifier: CA400557955

Gene: ACE

Linked Data

• dbSNP Id: rs2030160538
• gnomAD v3: 17-63488729-G-A
• gnomAD v4: 17-63488729-G-A
• MyVariant Identifiers: chr17:g.61566090G>A (hg19) ; chr17:g.63488729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488729G>A , CM000679.2:g.63488729G>A	GRCh38
NC_000017.10:g.61566090G>A , CM000679.1:g.61566090G>A	GRCh37
NC_000017.9:g.58919822G>A	NCBI36
NG_011648.1:g.16657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2387G>A MANE Select	ENSP00000290866.4:p.Arg796Lys
ENST00000290863.10:c.665G>A	ENSP00000290863.6:p.Arg222Lys
ENST00000290866.9:c.2387G>A	ENSP00000290866.4:p.Arg796Lys
ENST00000413513.7:c.665G>A	ENSP00000392247.3:p.Arg222Lys
ENST00000428043.5:c.2387G>A	ENSP00000397593.2:p.Arg796Lys
ENST00000577647.2:c.665G>A	ENSP00000464149.1:p.Arg222Lys
ENST00000578839.5:c.*457G>A	ENSP00000462110.2:n.*457G>A
ENST00000579204.1:c.646G>A	ENSP00000464629.1:n.646G>A
ENST00000579314.5:c.*116G>A	ENSP00000462599.1:n.*116G>A
ENST00000582005.5:c.*307G>A	ENSP00000462002.1:n.*307G>A
ENST00000582761.1:c.155G>A	ENSP00000462909.1:p.Arg52Lys
ENST00000584865.5:n.333G>A
NM_000789.3:c.2387G>A	NP_000780.1:p.Arg796Lys
NM_001178057.1:c.665G>A	NP_001171528.1:p.Arg222Lys
NM_152830.2:c.665G>A	NP_690043.1:p.Arg222Lys
XM_005257110.1:c.1838G>A	XP_005257167.1:p.Arg613Lys
XM_006721737.2:c.725G>A	XP_006721800.2:p.Arg242Lys
XM_006721737.3:c.725G>A	XP_006721800.2:p.Arg242Lys
NM_000789.4:c.2387G>A MANE Select	NP_000780.1:p.Arg796Lys
NM_001178057.2:c.665G>A	NP_001171528.1:p.Arg222Lys
NM_152830.3:c.665G>A	NP_690043.1:p.Arg222Lys
NM_001382700.1:c.1820G>A	NP_001369629.1:p.Arg607Lys
NM_001382701.1:c.1535G>A	NP_001369630.1:p.Arg512Lys
NM_001382702.1:c.317G>A	NP_001369631.1:p.Arg106Lys
NR_168483.1:n.765G>A