Canonical Allele Identifier: CA400558039

Gene: ACE

Linked Data

• gnomAD v4: 17-63488767-A-C
• MyVariant Identifiers: chr17:g.61566128A>C (hg19) ; chr17:g.63488767A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488767A>C , CM000679.2:g.63488767A>C	GRCh38
NC_000017.10:g.61566128A>C , CM000679.1:g.61566128A>C	GRCh37
NC_000017.9:g.58919860A>C	NCBI36
NG_011648.1:g.16695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2425A>C MANE Select	ENSP00000290866.4:p.Ile809Leu
ENST00000290863.10:c.703A>C	ENSP00000290863.6:p.Ile235Leu
ENST00000290866.9:c.2425A>C	ENSP00000290866.4:p.Ile809Leu
ENST00000413513.7:c.703A>C	ENSP00000392247.3:p.Ile235Leu
ENST00000428043.5:c.2425A>C	ENSP00000397593.2:p.Ile809Leu
ENST00000577647.2:c.703A>C	ENSP00000464149.1:p.Ile235Leu
ENST00000578839.5:c.*495A>C	ENSP00000462110.2:n.*495A>C
ENST00000579204.1:c.684A>C	ENSP00000464629.1:n.684A>C
ENST00000579314.5:c.*154A>C	ENSP00000462599.1:n.*154A>C
ENST00000582005.5:c.*345A>C	ENSP00000462002.1:n.*345A>C
ENST00000582761.1:c.193A>C	ENSP00000462909.1:p.Ile65Leu
ENST00000584865.5:n.371A>C
NM_000789.3:c.2425A>C	NP_000780.1:p.Ile809Leu
NM_001178057.1:c.703A>C	NP_001171528.1:p.Ile235Leu
NM_152830.2:c.703A>C	NP_690043.1:p.Ile235Leu
XM_005257110.1:c.1876A>C	XP_005257167.1:p.Ile626Leu
XM_006721737.2:c.763A>C	XP_006721800.2:p.Ile255Leu
XM_006721737.3:c.763A>C	XP_006721800.2:p.Ile255Leu
NM_000789.4:c.2425A>C MANE Select	NP_000780.1:p.Ile809Leu
NM_001178057.2:c.703A>C	NP_001171528.1:p.Ile235Leu
NM_152830.3:c.703A>C	NP_690043.1:p.Ile235Leu
NM_001382700.1:c.1858A>C	NP_001369629.1:p.Ile620Leu
NM_001382701.1:c.1573A>C	NP_001369630.1:p.Ile525Leu
NM_001382702.1:c.355A>C	NP_001369631.1:p.Ile119Leu
NR_168483.1:n.803A>C