Canonical Allele Identifier: CA400557981

Gene: ACE

Linked Data

• dbSNP Id: rs2030162732
• gnomAD v4: 17-63488741-A-C
• MyVariant Identifiers: chr17:g.61566102A>C (hg19) ; chr17:g.63488741A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488741A>C , CM000679.2:g.63488741A>C	GRCh38
NC_000017.10:g.61566102A>C , CM000679.1:g.61566102A>C	GRCh37
NC_000017.9:g.58919834A>C	NCBI36
NG_011648.1:g.16669A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2399A>C MANE Select	ENSP00000290866.4:p.Gln800Pro
ENST00000290863.10:c.677A>C	ENSP00000290863.6:p.Gln226Pro
ENST00000290866.9:c.2399A>C	ENSP00000290866.4:p.Gln800Pro
ENST00000413513.7:c.677A>C	ENSP00000392247.3:p.Gln226Pro
ENST00000428043.5:c.2399A>C	ENSP00000397593.2:p.Gln800Pro
ENST00000577647.2:c.677A>C	ENSP00000464149.1:p.Gln226Pro
ENST00000578839.5:c.*469A>C	ENSP00000462110.2:n.*469A>C
ENST00000579204.1:c.658A>C	ENSP00000464629.1:n.658A>C
ENST00000579314.5:c.*128A>C	ENSP00000462599.1:n.*128A>C
ENST00000582005.5:c.*319A>C	ENSP00000462002.1:n.*319A>C
ENST00000582761.1:c.167A>C	ENSP00000462909.1:p.Gln56Pro
ENST00000584865.5:n.345A>C
NM_000789.3:c.2399A>C	NP_000780.1:p.Gln800Pro
NM_001178057.1:c.677A>C	NP_001171528.1:p.Gln226Pro
NM_152830.2:c.677A>C	NP_690043.1:p.Gln226Pro
XM_005257110.1:c.1850A>C	XP_005257167.1:p.Gln617Pro
XM_006721737.2:c.737A>C	XP_006721800.2:p.Gln246Pro
XM_006721737.3:c.737A>C	XP_006721800.2:p.Gln246Pro
NM_000789.4:c.2399A>C MANE Select	NP_000780.1:p.Gln800Pro
NM_001178057.2:c.677A>C	NP_001171528.1:p.Gln226Pro
NM_152830.3:c.677A>C	NP_690043.1:p.Gln226Pro
NM_001382700.1:c.1832A>C	NP_001369629.1:p.Gln611Pro
NM_001382701.1:c.1547A>C	NP_001369630.1:p.Gln516Pro
NM_001382702.1:c.329A>C	NP_001369631.1:p.Gln110Pro
NR_168483.1:n.777A>C