Canonical Allele Identifier: CA400558380

Gene: ACE

Linked Data

• dbSNP Id: rs1314869920
• gnomAD v2: 17-61566380-A-C
• gnomAD v3: 17-63489019-A-C
• gnomAD v4: 17-63489019-A-C
• MyVariant Identifiers: chr17:g.61566380A>C (hg19) ; chr17:g.63489019A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489019A>C , CM000679.2:g.63489019A>C	GRCh38
NC_000017.10:g.61566380A>C , CM000679.1:g.61566380A>C	GRCh37
NC_000017.9:g.58920112A>C	NCBI36
NG_011648.1:g.16947A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2528A>C MANE Select	ENSP00000290866.4:p.Gln843Pro
ENST00000290863.10:c.806A>C	ENSP00000290863.6:p.Gln269Pro
ENST00000290866.9:c.2528A>C	ENSP00000290866.4:p.Gln843Pro
ENST00000413513.7:c.806A>C	ENSP00000392247.3:p.Gln269Pro
ENST00000428043.5:c.2528A>C	ENSP00000397593.2:p.Gln843Pro
ENST00000577647.2:c.806A>C	ENSP00000464149.1:p.Gln269Pro
ENST00000578839.5:c.*519+228A>C	ENSP00000462110.2:n.*519+228A>C
ENST00000579204.1:c.787A>C	ENSP00000464629.1:n.787A>C
ENST00000579314.5:c.*257A>C	ENSP00000462599.1:n.*257A>C
ENST00000582005.5:c.*448A>C	ENSP00000462002.1:n.*448A>C
ENST00000582761.1:c.296A>C	ENSP00000462909.1:p.Gln99Pro
ENST00000584865.5:n.474A>C
NM_000789.3:c.2528A>C	NP_000780.1:p.Gln843Pro
NM_001178057.1:c.806A>C	NP_001171528.1:p.Gln269Pro
NM_152830.2:c.806A>C	NP_690043.1:p.Gln269Pro
XM_005257110.1:c.1979A>C	XP_005257167.1:p.Gln660Pro
XM_006721737.2:c.866A>C	XP_006721800.2:p.Gln289Pro
XM_006721737.3:c.866A>C	XP_006721800.2:p.Gln289Pro
NM_000789.4:c.2528A>C MANE Select	NP_000780.1:p.Gln843Pro
NM_001178057.2:c.806A>C	NP_001171528.1:p.Gln269Pro
NM_152830.3:c.806A>C	NP_690043.1:p.Gln269Pro
NM_001382700.1:c.1961A>C	NP_001369629.1:p.Gln654Pro
NM_001382701.1:c.1676A>C	NP_001369630.1:p.Gln559Pro
NM_001382702.1:c.379+228A>C	NP_001369631.1:n.379+228A>C
NR_168483.1:n.906A>C