Canonical Allele Identifier: CA501341708

Gene: ACE

Linked Data

• dbSNP Id: rs1253155590
• gnomAD v2: 17-61559932-G-A
• gnomAD v3: 17-63482571-G-A
• gnomAD v4: 17-63482571-G-A
• MyVariant Identifiers: chr17:g.61559932G>A (hg19) ; chr17:g.63482571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482571G>A , CM000679.2:g.63482571G>A	GRCh38
NC_000017.10:g.61559932G>A , CM000679.1:g.61559932G>A	GRCh37
NC_000017.9:g.58913664G>A	NCBI36
NG_011648.1:g.10499G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1224G>A MANE Select	ENSP00000290866.4:p.Leu408=
ENST00000290866.9:c.1224G>A	ENSP00000290866.4:p.Leu408=
ENST00000428043.5:c.1224G>A	ENSP00000397593.2:p.Leu408=
ENST00000582678.5:c.*623G>A	ENSP00000462995.1:n.*623G>A
ENST00000584529.5:n.1258G>A
NM_000789.3:c.1224G>A	NP_000780.1:p.Leu408=
XM_005257110.1:c.675G>A	XP_005257167.1:p.Leu225=
NM_000789.4:c.1224G>A MANE Select	NP_000780.1:p.Leu408=
NM_001382700.1:c.657G>A	NP_001369629.1:p.Leu219=
NM_001382701.1:c.372G>A	NP_001369630.1:p.Leu124=