Canonical Allele Identifier: CA8700077

Gene: ACE

Linked Data

• dbSNP Id: rs748246753
• ExAC: 17:61566081 A / C
• gnomAD v2: 17-61566081-A-C
• gnomAD v3: 17-63488720-A-C
• gnomAD v4: 17-63488720-A-C
• MyVariant Identifiers: chr17:g.61566081A>C (hg19) ; chr17:g.63488720A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488720A>C , CM000679.2:g.63488720A>C	GRCh38
NC_000017.10:g.61566081A>C , CM000679.1:g.61566081A>C	GRCh37
NC_000017.9:g.58919813A>C	NCBI36
NG_011648.1:g.16648A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2378A>C MANE Select	ENSP00000290866.4:p.Lys793Thr
ENST00000290863.10:c.656A>C	ENSP00000290863.6:p.Lys219Thr
ENST00000290866.9:c.2378A>C	ENSP00000290866.4:p.Lys793Thr
ENST00000413513.7:c.656A>C	ENSP00000392247.3:p.Lys219Thr
ENST00000428043.5:c.2378A>C	ENSP00000397593.2:p.Lys793Thr
ENST00000577647.2:c.656A>C	ENSP00000464149.1:p.Lys219Thr
ENST00000578839.5:c.*448A>C	ENSP00000462110.2:n.*448A>C
ENST00000579204.1:c.637A>C	ENSP00000464629.1:n.637A>C
ENST00000579314.5:c.*107A>C	ENSP00000462599.1:n.*107A>C
ENST00000582005.5:c.*298A>C	ENSP00000462002.1:n.*298A>C
ENST00000582761.1:c.146A>C	ENSP00000462909.1:p.Lys49Thr
ENST00000584865.5:n.324A>C
NM_000789.3:c.2378A>C	NP_000780.1:p.Lys793Thr
NM_001178057.1:c.656A>C	NP_001171528.1:p.Lys219Thr
NM_152830.2:c.656A>C	NP_690043.1:p.Lys219Thr
XM_005257110.1:c.1829A>C	XP_005257167.1:p.Lys610Thr
XM_006721737.2:c.716A>C	XP_006721800.2:p.Lys239Thr
XM_006721737.3:c.716A>C	XP_006721800.2:p.Lys239Thr
NM_000789.4:c.2378A>C MANE Select	NP_000780.1:p.Lys793Thr
NM_001178057.2:c.656A>C	NP_001171528.1:p.Lys219Thr
NM_152830.3:c.656A>C	NP_690043.1:p.Lys219Thr
NM_001382700.1:c.1811A>C	NP_001369629.1:p.Lys604Thr
NM_001382701.1:c.1526A>C	NP_001369630.1:p.Lys509Thr
NM_001382702.1:c.308A>C	NP_001369631.1:p.Lys103Thr
NR_168483.1:n.756A>C