Canonical Allele Identifier: CA8700084

Gene: ACE

Linked Data

• dbSNP Id: rs567706604
• ExAC: 17:61566103 G / C
• gnomAD v2: 17-61566103-G-C
• gnomAD v3: 17-63488742-G-C
• gnomAD v4: 17-63488742-G-C
• MyVariant Identifiers: chr17:g.61566103G>C (hg19) ; chr17:g.63488742G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488742G>C , CM000679.2:g.63488742G>C	GRCh38
NC_000017.10:g.61566103G>C , CM000679.1:g.61566103G>C	GRCh37
NC_000017.9:g.58919835G>C	NCBI36
NG_011648.1:g.16670G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2400G>C MANE Select	ENSP00000290866.4:p.Gln800His
ENST00000290863.10:c.678G>C	ENSP00000290863.6:p.Gln226His
ENST00000290866.9:c.2400G>C	ENSP00000290866.4:p.Gln800His
ENST00000413513.7:c.678G>C	ENSP00000392247.3:p.Gln226His
ENST00000428043.5:c.2400G>C	ENSP00000397593.2:p.Gln800His
ENST00000577647.2:c.678G>C	ENSP00000464149.1:p.Gln226His
ENST00000578839.5:c.*470G>C	ENSP00000462110.2:n.*470G>C
ENST00000579204.1:c.659G>C	ENSP00000464629.1:n.659G>C
ENST00000579314.5:c.*129G>C	ENSP00000462599.1:n.*129G>C
ENST00000582005.5:c.*320G>C	ENSP00000462002.1:n.*320G>C
ENST00000582761.1:c.168G>C	ENSP00000462909.1:p.Gln56His
ENST00000584865.5:n.346G>C
NM_000789.3:c.2400G>C	NP_000780.1:p.Gln800His
NM_001178057.1:c.678G>C	NP_001171528.1:p.Gln226His
NM_152830.2:c.678G>C	NP_690043.1:p.Gln226His
XM_005257110.1:c.1851G>C	XP_005257167.1:p.Gln617His
XM_006721737.2:c.738G>C	XP_006721800.2:p.Gln246His
XM_006721737.3:c.738G>C	XP_006721800.2:p.Gln246His
NM_000789.4:c.2400G>C MANE Select	NP_000780.1:p.Gln800His
NM_001178057.2:c.678G>C	NP_001171528.1:p.Gln226His
NM_152830.3:c.678G>C	NP_690043.1:p.Gln226His
NM_001382700.1:c.1833G>C	NP_001369629.1:p.Gln611His
NM_001382701.1:c.1548G>C	NP_001369630.1:p.Gln516His
NM_001382702.1:c.330G>C	NP_001369631.1:p.Gln110His
NR_168483.1:n.778G>C