Canonical Allele Identifier: CA400557960

Gene: ACE

Linked Data

• dbSNP Id: rs1486364002
• gnomAD v2: 17-61566092-G-A
• gnomAD v4: 17-63488731-G-A
• MyVariant Identifiers: chr17:g.61566092G>A (hg19) ; chr17:g.63488731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488731G>A , CM000679.2:g.63488731G>A	GRCh38
NC_000017.10:g.61566092G>A , CM000679.1:g.61566092G>A	GRCh37
NC_000017.9:g.58919824G>A	NCBI36
NG_011648.1:g.16659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2389G>A MANE Select	ENSP00000290866.4:p.Ala797Thr
ENST00000290863.10:c.667G>A	ENSP00000290863.6:p.Ala223Thr
ENST00000290866.9:c.2389G>A	ENSP00000290866.4:p.Ala797Thr
ENST00000413513.7:c.667G>A	ENSP00000392247.3:p.Ala223Thr
ENST00000428043.5:c.2389G>A	ENSP00000397593.2:p.Ala797Thr
ENST00000577647.2:c.667G>A	ENSP00000464149.1:p.Ala223Thr
ENST00000578839.5:c.*459G>A	ENSP00000462110.2:n.*459G>A
ENST00000579204.1:c.648G>A	ENSP00000464629.1:n.648G>A
ENST00000579314.5:c.*118G>A	ENSP00000462599.1:n.*118G>A
ENST00000582005.5:c.*309G>A	ENSP00000462002.1:n.*309G>A
ENST00000582761.1:c.157G>A	ENSP00000462909.1:p.Ala53Thr
ENST00000584865.5:n.335G>A
NM_000789.3:c.2389G>A	NP_000780.1:p.Ala797Thr
NM_001178057.1:c.667G>A	NP_001171528.1:p.Ala223Thr
NM_152830.2:c.667G>A	NP_690043.1:p.Ala223Thr
XM_005257110.1:c.1840G>A	XP_005257167.1:p.Ala614Thr
XM_006721737.2:c.727G>A	XP_006721800.2:p.Ala243Thr
XM_006721737.3:c.727G>A	XP_006721800.2:p.Ala243Thr
NM_000789.4:c.2389G>A MANE Select	NP_000780.1:p.Ala797Thr
NM_001178057.2:c.667G>A	NP_001171528.1:p.Ala223Thr
NM_152830.3:c.667G>A	NP_690043.1:p.Ala223Thr
NM_001382700.1:c.1822G>A	NP_001369629.1:p.Ala608Thr
NM_001382701.1:c.1537G>A	NP_001369630.1:p.Ala513Thr
NM_001382702.1:c.319G>A	NP_001369631.1:p.Ala107Thr
NR_168483.1:n.767G>A