Canonical Allele Identifier: CA292883835

Gene: ACE

Linked Data

• dbSNP Id: rs995556379
• gnomAD v4: 17-63488958-G-A
• MyVariant Identifiers: chr17:g.61566319G>A (hg19) ; chr17:g.63488958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488958G>A , CM000679.2:g.63488958G>A	GRCh38
NC_000017.10:g.61566319G>A , CM000679.1:g.61566319G>A	GRCh37
NC_000017.9:g.58920051G>A	NCBI36
NG_011648.1:g.16886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2467G>A MANE Select	ENSP00000290866.4:p.Asp823Asn
ENST00000290863.10:c.745G>A	ENSP00000290863.6:p.Asp249Asn
ENST00000290866.9:c.2467G>A	ENSP00000290866.4:p.Asp823Asn
ENST00000413513.7:c.745G>A	ENSP00000392247.3:p.Asp249Asn
ENST00000428043.5:c.2467G>A	ENSP00000397593.2:p.Asp823Asn
ENST00000577647.2:c.745G>A	ENSP00000464149.1:p.Asp249Asn
ENST00000578839.5:c.*519+167G>A	ENSP00000462110.2:n.*519+167G>A
ENST00000579204.1:c.726G>A	ENSP00000464629.1:n.726G>A
ENST00000579314.5:c.*196G>A	ENSP00000462599.1:n.*196G>A
ENST00000582005.5:c.*387G>A	ENSP00000462002.1:n.*387G>A
ENST00000582761.1:c.235G>A	ENSP00000462909.1:p.Asp79Asn
ENST00000584865.5:n.413G>A
NM_000789.3:c.2467G>A	NP_000780.1:p.Asp823Asn
NM_001178057.1:c.745G>A	NP_001171528.1:p.Asp249Asn
NM_152830.2:c.745G>A	NP_690043.1:p.Asp249Asn
XM_005257110.1:c.1918G>A	XP_005257167.1:p.Asp640Asn
XM_006721737.2:c.805G>A	XP_006721800.2:p.Asp269Asn
XM_006721737.3:c.805G>A	XP_006721800.2:p.Asp269Asn
NM_000789.4:c.2467G>A MANE Select	NP_000780.1:p.Asp823Asn
NM_001178057.2:c.745G>A	NP_001171528.1:p.Asp249Asn
NM_152830.3:c.745G>A	NP_690043.1:p.Asp249Asn
NM_001382700.1:c.1900G>A	NP_001369629.1:p.Asp634Asn
NM_001382701.1:c.1615G>A	NP_001369630.1:p.Asp539Asn
NM_001382702.1:c.379+167G>A	NP_001369631.1:n.379+167G>A
NR_168483.1:n.845G>A