Canonical Allele Identifier: CA8699425

Gene: ACE

Linked Data

• dbSNP Id: rs752385390
• ExAC: 17:61559847 T / A
• gnomAD v2: 17-61559847-T-A
• gnomAD v4: 17-63482486-T-A
• MyVariant Identifiers: chr17:g.61559847T>A (hg19) ; chr17:g.63482486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482486T>A , CM000679.2:g.63482486T>A	GRCh38
NC_000017.10:g.61559847T>A , CM000679.1:g.61559847T>A	GRCh37
NC_000017.9:g.58913579T>A	NCBI36
NG_011648.1:g.10414T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1139T>A MANE Select	ENSP00000290866.4:p.Val380Asp
ENST00000290866.9:c.1139T>A	ENSP00000290866.4:p.Val380Asp
ENST00000428043.5:c.1139T>A	ENSP00000397593.2:p.Val380Asp
ENST00000582678.5:c.*538T>A	ENSP00000462995.1:n.*538T>A
ENST00000584529.5:n.1173T>A
NM_000789.3:c.1139T>A	NP_000780.1:p.Val380Asp
XM_005257110.1:c.590T>A	XP_005257167.1:p.Val197Asp
NM_000789.4:c.1139T>A MANE Select	NP_000780.1:p.Val380Asp
NM_001382700.1:c.572T>A	NP_001369629.1:p.Val191Asp
NM_001382701.1:c.287T>A	NP_001369630.1:p.Val96Asp