Canonical Allele Identifier: CA400557932

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566078A>C (hg19) ; chr17:g.63488717A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488717A>C , CM000679.2:g.63488717A>C	GRCh38
NC_000017.10:g.61566078A>C , CM000679.1:g.61566078A>C	GRCh37
NC_000017.9:g.58919810A>C	NCBI36
NG_011648.1:g.16645A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2375A>C MANE Select	ENSP00000290866.4:p.Asp792Ala
ENST00000290863.10:c.653A>C	ENSP00000290863.6:p.Asp218Ala
ENST00000290866.9:c.2375A>C	ENSP00000290866.4:p.Asp792Ala
ENST00000413513.7:c.653A>C	ENSP00000392247.3:p.Asp218Ala
ENST00000428043.5:c.2375A>C	ENSP00000397593.2:p.Asp792Ala
ENST00000577647.2:c.653A>C	ENSP00000464149.1:p.Asp218Ala
ENST00000578839.5:c.*445A>C	ENSP00000462110.2:n.*445A>C
ENST00000579204.1:c.634A>C	ENSP00000464629.1:n.634A>C
ENST00000579314.5:c.*104A>C	ENSP00000462599.1:n.*104A>C
ENST00000582005.5:c.*295A>C	ENSP00000462002.1:n.*295A>C
ENST00000582761.1:c.143A>C	ENSP00000462909.1:p.Asp48Ala
ENST00000584865.5:n.321A>C
NM_000789.3:c.2375A>C	NP_000780.1:p.Asp792Ala
NM_001178057.1:c.653A>C	NP_001171528.1:p.Asp218Ala
NM_152830.2:c.653A>C	NP_690043.1:p.Asp218Ala
XM_005257110.1:c.1826A>C	XP_005257167.1:p.Asp609Ala
XM_006721737.2:c.713A>C	XP_006721800.2:p.Asp238Ala
XM_006721737.3:c.713A>C	XP_006721800.2:p.Asp238Ala
NM_000789.4:c.2375A>C MANE Select	NP_000780.1:p.Asp792Ala
NM_001178057.2:c.653A>C	NP_001171528.1:p.Asp218Ala
NM_152830.3:c.653A>C	NP_690043.1:p.Asp218Ala
NM_001382700.1:c.1808A>C	NP_001369629.1:p.Asp603Ala
NM_001382701.1:c.1523A>C	NP_001369630.1:p.Asp508Ala
NM_001382702.1:c.305A>C	NP_001369631.1:p.Asp102Ala
NR_168483.1:n.753A>C