Canonical Allele Identifier: CA8700664

Gene: ACE

Linked Data

• dbSNP Id: rs756978461
• ExAC: 17:61574582 A / C
• gnomAD v2: 17-61574582-A-C
• gnomAD v4: 17-63497221-A-C
• MyVariant Identifiers: chr17:g.61574582A>C (hg19) ; chr17:g.63497221A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497221A>C , CM000679.2:g.63497221A>C	GRCh38
NC_000017.10:g.61574582A>C , CM000679.1:g.61574582A>C	GRCh37
NC_000017.9:g.58928314A>C	NCBI36
NG_011648.1:g.25149A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3776A>C MANE Select	ENSP00000290866.4:p.Gln1259Pro
ENST00000290863.10:c.2054A>C	ENSP00000290863.6:p.Gln685Pro
ENST00000290866.9:c.3776A>C	ENSP00000290866.4:p.Gln1259Pro
ENST00000413513.7:c.1931A>C	ENSP00000392247.3:p.Gln644Pro
ENST00000428043.5:c.*198A>C	ENSP00000397593.2:n.*198A>C
ENST00000577647.2:c.1969+236A>C	ENSP00000464149.1:n.1969+236A>C
ENST00000578839.5:c.*1531A>C	ENSP00000462110.2:n.*1531A>C
ENST00000579314.5:c.*1505A>C	ENSP00000462599.1:n.*1505A>C
NM_000789.3:c.3776A>C	NP_000780.1:p.Gln1259Pro
NM_001178057.1:c.1931A>C	NP_001171528.1:p.Gln644Pro
NM_152830.2:c.2054A>C	NP_690043.1:p.Gln685Pro
XM_005257110.1:c.3227A>C	XP_005257167.1:p.Gln1076Pro
XM_006721737.2:c.2114A>C	XP_006721800.2:p.Gln705Pro
XM_006721737.3:c.2114A>C	XP_006721800.2:p.Gln705Pro
NM_000789.4:c.3776A>C MANE Select	NP_000780.1:p.Gln1259Pro
NM_001178057.2:c.1931A>C	NP_001171528.1:p.Gln644Pro
NM_152830.3:c.2054A>C	NP_690043.1:p.Gln685Pro
NM_001382700.1:c.3209A>C	NP_001369629.1:p.Gln1070Pro
NM_001382701.1:c.2924A>C	NP_001369630.1:p.Gln975Pro
NM_001382702.1:c.1391A>C	NP_001369631.1:p.Gln464Pro
NR_168483.1:n.2154A>C