Canonical Allele Identifier: CA400540623

Gene: ACE

Linked Data

• dbSNP Id: rs1407901466
• gnomAD v4: 17-63477960-T-A
• MyVariant Identifiers: chr17:g.61555321T>A (hg19) ; chr17:g.63477960T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477960T>A , CM000679.2:g.63477960T>A	GRCh38
NC_000017.10:g.61555321T>A , CM000679.1:g.61555321T>A	GRCh37
NC_000017.9:g.58909053T>A	NCBI36
NG_011648.1:g.5888T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.279T>A MANE Select	ENSP00000290866.4:p.Phe93Leu
ENST00000290866.9:c.279T>A	ENSP00000290866.4:p.Phe93Leu
ENST00000428043.5:c.279T>A	ENSP00000397593.2:p.Phe93Leu
ENST00000579462.1:n.304T>A
ENST00000580318.1:n.468T>A
ENST00000582627.1:c.279T>A	ENSP00000462280.1:p.Phe93Leu
ENST00000582678.5:c.279T>A	ENSP00000462995.1:p.Phe93Leu
ENST00000583336.5:n.313T>A
ENST00000584529.5:n.313T>A
NM_000789.3:c.279T>A	NP_000780.1:p.Phe93Leu
XM_005257110.1:c.-177T>A	XP_005257167.1:n.-177T>A
NM_000789.4:c.279T>A MANE Select	NP_000780.1:p.Phe93Leu
NM_001382700.1:c.44T>A	NP_001369629.1:p.Leu15Ter
NM_001382701.1:c.-336T>A	NP_001369630.1:n.-336T>A