Canonical Allele Identifier: CA400558254

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566361G>C (hg19) ; chr17:g.63489000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489000G>C , CM000679.2:g.63489000G>C	GRCh38
NC_000017.10:g.61566361G>C , CM000679.1:g.61566361G>C	GRCh37
NC_000017.9:g.58920093G>C	NCBI36
NG_011648.1:g.16928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2509G>C MANE Select	ENSP00000290866.4:p.Asp837His
ENST00000290863.10:c.787G>C	ENSP00000290863.6:p.Asp263His
ENST00000290866.9:c.2509G>C	ENSP00000290866.4:p.Asp837His
ENST00000413513.7:c.787G>C	ENSP00000392247.3:p.Asp263His
ENST00000428043.5:c.2509G>C	ENSP00000397593.2:p.Asp837His
ENST00000577647.2:c.787G>C	ENSP00000464149.1:p.Asp263His
ENST00000578839.5:c.*519+209G>C	ENSP00000462110.2:n.*519+209G>C
ENST00000579204.1:c.768G>C	ENSP00000464629.1:n.768G>C
ENST00000579314.5:c.*238G>C	ENSP00000462599.1:n.*238G>C
ENST00000582005.5:c.*429G>C	ENSP00000462002.1:n.*429G>C
ENST00000582761.1:c.277G>C	ENSP00000462909.1:p.Asp93His
ENST00000584865.5:n.455G>C
NM_000789.3:c.2509G>C	NP_000780.1:p.Asp837His
NM_001178057.1:c.787G>C	NP_001171528.1:p.Asp263His
NM_152830.2:c.787G>C	NP_690043.1:p.Asp263His
XM_005257110.1:c.1960G>C	XP_005257167.1:p.Asp654His
XM_006721737.2:c.847G>C	XP_006721800.2:p.Asp283His
XM_006721737.3:c.847G>C	XP_006721800.2:p.Asp283His
NM_000789.4:c.2509G>C MANE Select	NP_000780.1:p.Asp837His
NM_001178057.2:c.787G>C	NP_001171528.1:p.Asp263His
NM_152830.3:c.787G>C	NP_690043.1:p.Asp263His
NM_001382700.1:c.1942G>C	NP_001369629.1:p.Asp648His
NM_001382701.1:c.1657G>C	NP_001369630.1:p.Asp553His
NM_001382702.1:c.379+209G>C	NP_001369631.1:n.379+209G>C
NR_168483.1:n.887G>C