Canonical Allele Identifier: CA400566706

Gene: ACE

Linked Data

• dbSNP Id: rs1406482731
• gnomAD v2: 17-61574192-G-A
• gnomAD v4: 17-63496831-G-A
• MyVariant Identifiers: chr17:g.61574192G>A (hg19) ; chr17:g.63496831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496831G>A , CM000679.2:g.63496831G>A	GRCh38
NC_000017.10:g.61574192G>A , CM000679.1:g.61574192G>A	GRCh37
NC_000017.9:g.58927924G>A	NCBI36
NG_011648.1:g.24759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3537G>A MANE Select	ENSP00000290866.4:p.Trp1179Ter
ENST00000290863.10:c.1815G>A	ENSP00000290863.6:p.Trp605Ter
ENST00000290866.9:c.3537G>A	ENSP00000290866.4:p.Trp1179Ter
ENST00000413513.7:c.1692G>A	ENSP00000392247.3:p.Trp564Ter
ENST00000428043.5:c.3537G>A	ENSP00000397593.2:p.Trp1179Ter
ENST00000577418.5:n.547G>A
ENST00000577647.2:c.1815G>A	ENSP00000464149.1:p.Trp605Ter
ENST00000578839.5:c.*1292G>A	ENSP00000462110.2:n.*1292G>A
ENST00000579314.5:c.*1266G>A	ENSP00000462599.1:n.*1266G>A
ENST00000579409.1:c.224G>A
ENST00000582244.1:n.411G>A
NM_000789.3:c.3537G>A	NP_000780.1:p.Trp1179Ter
NM_001178057.1:c.1692G>A	NP_001171528.1:p.Trp564Ter
NM_152830.2:c.1815G>A	NP_690043.1:p.Trp605Ter
XM_005257110.1:c.2988G>A	XP_005257167.1:p.Trp996Ter
XM_006721737.2:c.1875G>A	XP_006721800.2:p.Trp625Ter
XM_006721737.3:c.1875G>A	XP_006721800.2:p.Trp625Ter
NM_000789.4:c.3537G>A MANE Select	NP_000780.1:p.Trp1179Ter
NM_001178057.2:c.1692G>A	NP_001171528.1:p.Trp564Ter
NM_152830.3:c.1815G>A	NP_690043.1:p.Trp605Ter
NM_001382700.1:c.2970G>A	NP_001369629.1:p.Trp990Ter
NM_001382701.1:c.2685G>A	NP_001369630.1:p.Trp895Ter
NM_001382702.1:c.1152G>A	NP_001369631.1:p.Trp384Ter
NR_168483.1:n.1915G>A