Canonical Allele Identifier: CA501341530

Gene: ACE

Linked Data

• gnomAD v4: 17-63478071-C-A
• MyVariant Identifiers: chr17:g.61555432C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478071C>A , CM000679.2:g.63478071C>A	GRCh38
NC_000017.10:g.61555432C>A , CM000679.1:g.61555432C>A	GRCh37
NC_000017.9:g.58909164C>A	NCBI36
NG_011648.1:g.5999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.390C>A MANE Select	ENSP00000290866.4:p.Ala130=
ENST00000290866.9:c.390C>A	ENSP00000290866.4:p.Ala130=
ENST00000428043.5:c.390C>A	ENSP00000397593.2:p.Ala130=
ENST00000579462.1:n.415C>A
ENST00000580318.1:n.579C>A
ENST00000582627.1:c.390C>A	ENSP00000462280.1:p.Ala130=
ENST00000582678.5:c.390C>A	ENSP00000462995.1:p.Ala130=
ENST00000583336.5:n.424C>A
ENST00000584529.5:n.424C>A
NM_000789.3:c.390C>A	NP_000780.1:p.Ala130=
XM_005257110.1:c.-66C>A	XP_005257167.1:n.-66C>A
NM_000789.4:c.390C>A MANE Select	NP_000780.1:p.Ala130=
NM_001382700.1:c.155C>A	NP_001369629.1:p.Pro52Gln
NM_001382701.1:c.-225C>A	NP_001369630.1:n.-225C>A