Canonical Allele Identifier: CA400567498

Gene: ACE

Linked Data

• dbSNP Id: rs766053859
• gnomAD v2: 17-61574286-G-T
• gnomAD v4: 17-63496925-G-T
• MyVariant Identifiers: chr17:g.61574286G>T (hg19) ; chr17:g.63496925G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496925G>T , CM000679.2:g.63496925G>T	GRCh38
NC_000017.10:g.61574286G>T , CM000679.1:g.61574286G>T	GRCh37
NC_000017.9:g.58928018G>T	NCBI36
NG_011648.1:g.24853G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3631G>T MANE Select	ENSP00000290866.4:p.Glu1211Ter
ENST00000290863.10:c.1909G>T	ENSP00000290863.6:p.Glu637Ter
ENST00000290866.9:c.3631G>T	ENSP00000290866.4:p.Glu1211Ter
ENST00000413513.7:c.1786G>T	ENSP00000392247.3:p.Glu596Ter
ENST00000428043.5:c.3631G>T	ENSP00000397593.2:p.Glu1211Ter
ENST00000577418.5:n.641G>T
ENST00000577647.2:c.1909G>T	ENSP00000464149.1:p.Glu637Ter
ENST00000578839.5:c.*1386G>T	ENSP00000462110.2:n.*1386G>T
ENST00000579314.5:c.*1360G>T	ENSP00000462599.1:n.*1360G>T
ENST00000579409.1:c.318G>T
ENST00000582244.1:n.505G>T
NM_000789.3:c.3631G>T	NP_000780.1:p.Glu1211Ter
NM_001178057.1:c.1786G>T	NP_001171528.1:p.Glu596Ter
NM_152830.2:c.1909G>T	NP_690043.1:p.Glu637Ter
XM_005257110.1:c.3082G>T	XP_005257167.1:p.Glu1028Ter
XM_006721737.2:c.1969G>T	XP_006721800.2:p.Glu657Ter
XM_006721737.3:c.1969G>T	XP_006721800.2:p.Glu657Ter
NM_000789.4:c.3631G>T MANE Select	NP_000780.1:p.Glu1211Ter
NM_001178057.2:c.1786G>T	NP_001171528.1:p.Glu596Ter
NM_152830.3:c.1909G>T	NP_690043.1:p.Glu637Ter
NM_001382700.1:c.3064G>T	NP_001369629.1:p.Glu1022Ter
NM_001382701.1:c.2779G>T	NP_001369630.1:p.Glu927Ter
NM_001382702.1:c.1246G>T	NP_001369631.1:p.Glu416Ter
NR_168483.1:n.2009G>T