Canonical Allele Identifier: CA400566928

Gene: ACE

Linked Data

• dbSNP Id: rs1396533675
• gnomAD v2: 17-61574218-G-A
• MyVariant Identifiers: chr17:g.61574218G>A (hg19) ; chr17:g.63496857G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496857G>A , CM000679.2:g.63496857G>A	GRCh38
NC_000017.10:g.61574218G>A , CM000679.1:g.61574218G>A	GRCh37
NC_000017.9:g.58927950G>A	NCBI36
NG_011648.1:g.24785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3563G>A MANE Select	ENSP00000290866.4:p.Gly1188Asp
ENST00000290863.10:c.1841G>A	ENSP00000290863.6:p.Gly614Asp
ENST00000290866.9:c.3563G>A	ENSP00000290866.4:p.Gly1188Asp
ENST00000413513.7:c.1718G>A	ENSP00000392247.3:p.Gly573Asp
ENST00000428043.5:c.3563G>A	ENSP00000397593.2:p.Gly1188Asp
ENST00000577418.5:n.573G>A
ENST00000577647.2:c.1841G>A	ENSP00000464149.1:p.Gly614Asp
ENST00000578839.5:c.*1318G>A	ENSP00000462110.2:n.*1318G>A
ENST00000579314.5:c.*1292G>A	ENSP00000462599.1:n.*1292G>A
ENST00000579409.1:c.250G>A
ENST00000582244.1:n.437G>A
NM_000789.3:c.3563G>A	NP_000780.1:p.Gly1188Asp
NM_001178057.1:c.1718G>A	NP_001171528.1:p.Gly573Asp
NM_152830.2:c.1841G>A	NP_690043.1:p.Gly614Asp
XM_005257110.1:c.3014G>A	XP_005257167.1:p.Gly1005Asp
XM_006721737.2:c.1901G>A	XP_006721800.2:p.Gly634Asp
XM_006721737.3:c.1901G>A	XP_006721800.2:p.Gly634Asp
NM_000789.4:c.3563G>A MANE Select	NP_000780.1:p.Gly1188Asp
NM_001178057.2:c.1718G>A	NP_001171528.1:p.Gly573Asp
NM_152830.3:c.1841G>A	NP_690043.1:p.Gly614Asp
NM_001382700.1:c.2996G>A	NP_001369629.1:p.Gly999Asp
NM_001382701.1:c.2711G>A	NP_001369630.1:p.Gly904Asp
NM_001382702.1:c.1178G>A	NP_001369631.1:p.Gly393Asp
NR_168483.1:n.1941G>A