Canonical Allele Identifier: CA400556644

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564367T>A (hg19) ; chr17:g.63487006T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487006T>A , CM000679.2:g.63487006T>A	GRCh38
NC_000017.10:g.61564367T>A , CM000679.1:g.61564367T>A	GRCh37
NC_000017.9:g.58918099T>A	NCBI36
NG_011648.1:g.14934T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2238T>A MANE Select	ENSP00000290866.4:p.Asp746Glu
ENST00000290863.10:c.516T>A	ENSP00000290863.6:p.Asp172Glu
ENST00000290866.9:c.2238T>A	ENSP00000290866.4:p.Asp746Glu
ENST00000413513.7:c.516T>A	ENSP00000392247.3:p.Asp172Glu
ENST00000428043.5:c.2238T>A	ENSP00000397593.2:p.Asp746Glu
ENST00000577647.2:c.516T>A	ENSP00000464149.1:p.Asp172Glu
ENST00000578839.5:c.*308T>A	ENSP00000462110.2:n.*308T>A
ENST00000579204.1:c.419T>A	ENSP00000464629.1:n.419T>A
ENST00000579314.5:c.516T>A	ENSP00000462599.1:p.Asp172Glu
ENST00000579726.5:c.800T>A
ENST00000582005.5:c.*158T>A	ENSP00000462002.1:n.*158T>A
ENST00000582761.1:c.6T>A	ENSP00000462909.1:p.Asp2Glu
ENST00000584865.5:n.184T>A
NM_000789.3:c.2238T>A	NP_000780.1:p.Asp746Glu
NM_001178057.1:c.516T>A	NP_001171528.1:p.Asp172Glu
NM_152830.2:c.516T>A	NP_690043.1:p.Asp172Glu
XM_005257110.1:c.1689T>A	XP_005257167.1:p.Asp563Glu
XM_006721737.2:c.576T>A	XP_006721800.2:p.Asp192Glu
XM_006721737.3:c.576T>A	XP_006721800.2:p.Asp192Glu
NM_000789.4:c.2238T>A MANE Select	NP_000780.1:p.Asp746Glu
NM_001178057.2:c.516T>A	NP_001171528.1:p.Asp172Glu
NM_152830.3:c.516T>A	NP_690043.1:p.Asp172Glu
NM_001382700.1:c.1671T>A	NP_001369629.1:p.Asp557Glu
NM_001382701.1:c.1386T>A	NP_001369630.1:p.Asp462Glu
NM_001382702.1:c.168T>A	NP_001369631.1:p.Asp56Glu
NR_168483.1:n.538T>A