Canonical Allele Identifier: CA292870366

Gene: ACE

Linked Data

• dbSNP Id: rs868134438
• gnomAD v4: 17-63477269-C-A
• MyVariant Identifiers: chr17:g.61554630C>A (hg19) ; chr17:g.63477269C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477269C>A , CM000679.2:g.63477269C>A	GRCh38
NC_000017.10:g.61554630C>A , CM000679.1:g.61554630C>A	GRCh37
NC_000017.9:g.58908362C>A	NCBI36
NG_011648.1:g.5197C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.175C>A MANE Select	ENSP00000290866.4:p.Gln59Lys
ENST00000290866.9:c.175C>A	ENSP00000290866.4:p.Gln59Lys
ENST00000428043.5:c.175C>A	ENSP00000397593.2:p.Gln59Lys
ENST00000579462.1:n.200C>A
ENST00000582678.5:c.175C>A	ENSP00000462995.1:p.Gln59Lys
ENST00000583336.5:n.209C>A
ENST00000584529.5:n.209C>A
NM_000789.3:c.175C>A	NP_000780.1:p.Gln59Lys
XM_005257110.1:c.-281C>A	XP_005257167.1:n.-281C>A
NM_000789.4:c.175C>A MANE Select	NP_000780.1:p.Gln59Lys
NM_001382700.1:c.-61C>A	NP_001369629.1:n.-61C>A
NM_001382701.1:c.-440C>A	NP_001369630.1:n.-440C>A