Canonical Allele Identifier: CA400569261

Gene: ACE

Linked Data

• gnomAD v4: 17-63497296-G-C
• MyVariant Identifiers: chr17:g.61574657G>C (hg19) ; chr17:g.63497296G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497296G>C , CM000679.2:g.63497296G>C	GRCh38
NC_000017.10:g.61574657G>C , CM000679.1:g.61574657G>C	GRCh37
NC_000017.9:g.58928389G>C	NCBI36
NG_011648.1:g.25224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3851G>C MANE Select	ENSP00000290866.4:p.Arg1284Pro
ENST00000290863.10:c.2129G>C	ENSP00000290863.6:p.Arg710Pro
ENST00000290866.9:c.3851G>C	ENSP00000290866.4:p.Arg1284Pro
ENST00000413513.7:c.2006G>C	ENSP00000392247.3:p.Arg669Pro
ENST00000428043.5:c.*273G>C	ENSP00000397593.2:n.*273G>C
ENST00000577647.2:c.1969+311G>C	ENSP00000464149.1:n.1969+311G>C
ENST00000578839.5:c.*1606G>C	ENSP00000462110.2:n.*1606G>C
ENST00000579314.5:c.*1580G>C	ENSP00000462599.1:n.*1580G>C
NM_000789.3:c.3851G>C	NP_000780.1:p.Arg1284Pro
NM_001178057.1:c.2006G>C	NP_001171528.1:p.Arg669Pro
NM_152830.2:c.2129G>C	NP_690043.1:p.Arg710Pro
XM_005257110.1:c.3302G>C	XP_005257167.1:p.Arg1101Pro
XM_006721737.2:c.2189G>C	XP_006721800.2:p.Arg730Pro
XM_006721737.3:c.2189G>C	XP_006721800.2:p.Arg730Pro
NM_000789.4:c.3851G>C MANE Select	NP_000780.1:p.Arg1284Pro
NM_001178057.2:c.2006G>C	NP_001171528.1:p.Arg669Pro
NM_152830.3:c.2129G>C	NP_690043.1:p.Arg710Pro
NM_001382700.1:c.3284G>C	NP_001369629.1:p.Arg1095Pro
NM_001382701.1:c.2999G>C	NP_001369630.1:p.Arg1000Pro
NM_001382702.1:c.1466G>C	NP_001369631.1:p.Arg489Pro
NR_168483.1:n.2229G>C