Canonical Allele Identifier: CA8699027

Gene: ACE

Linked Data

• dbSNP Id: rs762839851
• ExAC: 17:61555400 A / T
• gnomAD v2: 17-61555400-A-T
• gnomAD v4: 17-63478039-A-T
• MyVariant Identifiers: chr17:g.61555400A>T (hg19) ; chr17:g.63478039A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478039A>T , CM000679.2:g.63478039A>T	GRCh38
NC_000017.10:g.61555400A>T , CM000679.1:g.61555400A>T	GRCh37
NC_000017.9:g.58909132A>T	NCBI36
NG_011648.1:g.5967A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.358A>T MANE Select	ENSP00000290866.4:p.Ile120Phe
ENST00000290866.9:c.358A>T	ENSP00000290866.4:p.Ile120Phe
ENST00000428043.5:c.358A>T	ENSP00000397593.2:p.Ile120Phe
ENST00000579462.1:n.383A>T
ENST00000580318.1:n.547A>T
ENST00000582627.1:c.358A>T	ENSP00000462280.1:p.Ile120Phe
ENST00000582678.5:c.358A>T	ENSP00000462995.1:p.Ile120Phe
ENST00000583336.5:n.392A>T
ENST00000584529.5:n.392A>T
NM_000789.3:c.358A>T	NP_000780.1:p.Ile120Phe
XM_005257110.1:c.-98A>T	XP_005257167.1:n.-98A>T
NM_000789.4:c.358A>T MANE Select	NP_000780.1:p.Ile120Phe
NM_001382700.1:c.123A>T	NP_001369629.1:p.Gly41=
NM_001382701.1:c.-257A>T	NP_001369630.1:n.-257A>T