Canonical Allele Identifier: CA400556636

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564366A>C (hg19) ; chr17:g.63487005A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487005A>C , CM000679.2:g.63487005A>C	GRCh38
NC_000017.10:g.61564366A>C , CM000679.1:g.61564366A>C	GRCh37
NC_000017.9:g.58918098A>C	NCBI36
NG_011648.1:g.14933A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2237A>C MANE Select	ENSP00000290866.4:p.Asp746Ala
ENST00000290863.10:c.515A>C	ENSP00000290863.6:p.Asp172Ala
ENST00000290866.9:c.2237A>C	ENSP00000290866.4:p.Asp746Ala
ENST00000413513.7:c.515A>C	ENSP00000392247.3:p.Asp172Ala
ENST00000428043.5:c.2237A>C	ENSP00000397593.2:p.Asp746Ala
ENST00000577647.2:c.515A>C	ENSP00000464149.1:p.Asp172Ala
ENST00000578839.5:c.*307A>C	ENSP00000462110.2:n.*307A>C
ENST00000579204.1:c.418A>C	ENSP00000464629.1:n.418A>C
ENST00000579314.5:c.515A>C	ENSP00000462599.1:p.Asp172Ala
ENST00000579726.5:c.799A>C
ENST00000582005.5:c.*157A>C	ENSP00000462002.1:n.*157A>C
ENST00000582761.1:c.5A>C	ENSP00000462909.1:p.Asp2Ala
ENST00000584865.5:n.183A>C
NM_000789.3:c.2237A>C	NP_000780.1:p.Asp746Ala
NM_001178057.1:c.515A>C	NP_001171528.1:p.Asp172Ala
NM_152830.2:c.515A>C	NP_690043.1:p.Asp172Ala
XM_005257110.1:c.1688A>C	XP_005257167.1:p.Asp563Ala
XM_006721737.2:c.575A>C	XP_006721800.2:p.Asp192Ala
XM_006721737.3:c.575A>C	XP_006721800.2:p.Asp192Ala
NM_000789.4:c.2237A>C MANE Select	NP_000780.1:p.Asp746Ala
NM_001178057.2:c.515A>C	NP_001171528.1:p.Asp172Ala
NM_152830.3:c.515A>C	NP_690043.1:p.Asp172Ala
NM_001382700.1:c.1670A>C	NP_001369629.1:p.Asp557Ala
NM_001382701.1:c.1385A>C	NP_001369630.1:p.Asp462Ala
NM_001382702.1:c.167A>C	NP_001369631.1:p.Asp56Ala
NR_168483.1:n.537A>C