Canonical Allele Identifier: CA400556003

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563993T>A (hg19) ; chr17:g.63486632T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486632T>A , CM000679.2:g.63486632T>A	GRCh38
NC_000017.10:g.61563993T>A , CM000679.1:g.61563993T>A	GRCh37
NC_000017.9:g.58917725T>A	NCBI36
NG_011648.1:g.14560T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2134T>A MANE Select	ENSP00000290866.4:p.Leu712Met
ENST00000290863.10:c.412T>A	ENSP00000290863.6:p.Leu138Met
ENST00000290866.9:c.2134T>A	ENSP00000290866.4:p.Leu712Met
ENST00000413513.7:c.412T>A	ENSP00000392247.3:p.Leu138Met
ENST00000428043.5:c.2134T>A	ENSP00000397593.2:p.Leu712Met
ENST00000577647.2:c.412T>A	ENSP00000464149.1:p.Leu138Met
ENST00000578839.5:c.*204T>A	ENSP00000462110.2:n.*204T>A
ENST00000579204.1:c.315T>A	ENSP00000464629.1:n.315T>A
ENST00000579314.5:c.412T>A	ENSP00000462599.1:p.Leu138Met
ENST00000579726.5:c.696T>A
ENST00000582005.5:c.*54T>A	ENSP00000462002.1:n.*54T>A
NM_000789.3:c.2134T>A	NP_000780.1:p.Leu712Met
NM_001178057.1:c.412T>A	NP_001171528.1:p.Leu138Met
NM_152830.2:c.412T>A	NP_690043.1:p.Leu138Met
XM_005257110.1:c.1585T>A	XP_005257167.1:p.Leu529Met
XM_006721737.2:c.472T>A	XP_006721800.2:p.Leu158Met
XM_006721737.3:c.472T>A	XP_006721800.2:p.Leu158Met
NM_000789.4:c.2134T>A MANE Select	NP_000780.1:p.Leu712Met
NM_001178057.2:c.412T>A	NP_001171528.1:p.Leu138Met
NM_152830.3:c.412T>A	NP_690043.1:p.Leu138Met
NM_001382700.1:c.1567T>A	NP_001369629.1:p.Leu523Met
NM_001382701.1:c.1282T>A	NP_001369630.1:p.Leu428Met
NM_001382702.1:c.64T>A	NP_001369631.1:p.Leu22Met
NR_168483.1:n.434T>A