Canonical Allele Identifier: CA400557867

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566048A>C (hg19) ; chr17:g.63488687A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488687A>C , CM000679.2:g.63488687A>C	GRCh38
NC_000017.10:g.61566048A>C , CM000679.1:g.61566048A>C	GRCh37
NC_000017.9:g.58919780A>C	NCBI36
NG_011648.1:g.16615A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2345A>C MANE Select	ENSP00000290866.4:p.Asp782Ala
ENST00000290863.10:c.623A>C	ENSP00000290863.6:p.Asp208Ala
ENST00000290866.9:c.2345A>C	ENSP00000290866.4:p.Asp782Ala
ENST00000413513.7:c.623A>C	ENSP00000392247.3:p.Asp208Ala
ENST00000428043.5:c.2345A>C	ENSP00000397593.2:p.Asp782Ala
ENST00000577647.2:c.623A>C	ENSP00000464149.1:p.Asp208Ala
ENST00000578839.5:c.*415A>C	ENSP00000462110.2:n.*415A>C
ENST00000579204.1:c.604A>C	ENSP00000464629.1:n.604A>C
ENST00000579314.5:c.*74A>C	ENSP00000462599.1:n.*74A>C
ENST00000582005.5:c.*265A>C	ENSP00000462002.1:n.*265A>C
ENST00000582761.1:c.113A>C	ENSP00000462909.1:p.Asp38Ala
ENST00000584865.5:n.291A>C
NM_000789.3:c.2345A>C	NP_000780.1:p.Asp782Ala
NM_001178057.1:c.623A>C	NP_001171528.1:p.Asp208Ala
NM_152830.2:c.623A>C	NP_690043.1:p.Asp208Ala
XM_005257110.1:c.1796A>C	XP_005257167.1:p.Asp599Ala
XM_006721737.2:c.683A>C	XP_006721800.2:p.Asp228Ala
XM_006721737.3:c.683A>C	XP_006721800.2:p.Asp228Ala
NM_000789.4:c.2345A>C MANE Select	NP_000780.1:p.Asp782Ala
NM_001178057.2:c.623A>C	NP_001171528.1:p.Asp208Ala
NM_152830.3:c.623A>C	NP_690043.1:p.Asp208Ala
NM_001382700.1:c.1778A>C	NP_001369629.1:p.Asp593Ala
NM_001382701.1:c.1493A>C	NP_001369630.1:p.Asp498Ala
NM_001382702.1:c.275A>C	NP_001369631.1:p.Asp92Ala
NR_168483.1:n.723A>C