Canonical Allele Identifier: CA400557967

Gene: ACE

Linked Data

• gnomAD v4: 17-63488734-A-T
• MyVariant Identifiers: chr17:g.61566095A>T (hg19) ; chr17:g.63488734A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488734A>T , CM000679.2:g.63488734A>T	GRCh38
NC_000017.10:g.61566095A>T , CM000679.1:g.61566095A>T	GRCh37
NC_000017.9:g.58919827A>T	NCBI36
NG_011648.1:g.16662A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2392A>T MANE Select	ENSP00000290866.4:p.Ile798Phe
ENST00000290863.10:c.670A>T	ENSP00000290863.6:p.Ile224Phe
ENST00000290866.9:c.2392A>T	ENSP00000290866.4:p.Ile798Phe
ENST00000413513.7:c.670A>T	ENSP00000392247.3:p.Ile224Phe
ENST00000428043.5:c.2392A>T	ENSP00000397593.2:p.Ile798Phe
ENST00000577647.2:c.670A>T	ENSP00000464149.1:p.Ile224Phe
ENST00000578839.5:c.*462A>T	ENSP00000462110.2:n.*462A>T
ENST00000579204.1:c.651A>T	ENSP00000464629.1:n.651A>T
ENST00000579314.5:c.*121A>T	ENSP00000462599.1:n.*121A>T
ENST00000582005.5:c.*312A>T	ENSP00000462002.1:n.*312A>T
ENST00000582761.1:c.160A>T	ENSP00000462909.1:p.Ile54Phe
ENST00000584865.5:n.338A>T
NM_000789.3:c.2392A>T	NP_000780.1:p.Ile798Phe
NM_001178057.1:c.670A>T	NP_001171528.1:p.Ile224Phe
NM_152830.2:c.670A>T	NP_690043.1:p.Ile224Phe
XM_005257110.1:c.1843A>T	XP_005257167.1:p.Ile615Phe
XM_006721737.2:c.730A>T	XP_006721800.2:p.Ile244Phe
XM_006721737.3:c.730A>T	XP_006721800.2:p.Ile244Phe
NM_000789.4:c.2392A>T MANE Select	NP_000780.1:p.Ile798Phe
NM_001178057.2:c.670A>T	NP_001171528.1:p.Ile224Phe
NM_152830.3:c.670A>T	NP_690043.1:p.Ile224Phe
NM_001382700.1:c.1825A>T	NP_001369629.1:p.Ile609Phe
NM_001382701.1:c.1540A>T	NP_001369630.1:p.Ile514Phe
NM_001382702.1:c.322A>T	NP_001369631.1:p.Ile108Phe
NR_168483.1:n.770A>T