Canonical Allele Identifier: CA626846486

Gene: ACE

Linked Data

• dbSNP Id: rs1217558317
• gnomAD v2: 17-61575680-T-A
• gnomAD v3: 17-63498319-T-A
• gnomAD v4: 17-63498319-T-A
• MyVariant Identifiers: chr17:g.61575680T>A (hg19) ; chr17:g.63498319T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498319T>A , CM000679.2:g.63498319T>A	GRCh38
NC_000017.10:g.61575680T>A , CM000679.1:g.61575680T>A	GRCh37
NC_000017.9:g.58929412T>A	NCBI36
NG_011648.1:g.26247T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*953T>A MANE Select	ENSP00000290866.4:n.*953T>A
ENST00000290866.9:c.*953T>A	ENSP00000290866.4:n.*953T>A
ENST00000428043.5:c.*1296T>A	ENSP00000397593.2:n.*1296T>A
ENST00000577647.2:c.1969+1334T>A	ENSP00000464149.1:n.1969+1334T>A
NM_000789.3:c.*953T>A	NP_000780.1:n.*953T>A
NM_001178057.1:c.*953T>A	NP_001171528.1:n.*953T>A
NM_152830.2:c.*953T>A	NP_690043.1:n.*953T>A
XM_005257110.1:c.*953T>A	XP_005257167.1:n.*953T>A
XM_006721737.2:c.*953T>A	XP_006721800.2:n.*953T>A
NM_000789.4:c.*953T>A MANE Select	NP_000780.1:n.*953T>A
NM_001178057.2:c.*953T>A	NP_001171528.1:n.*953T>A
NM_152830.3:c.*953T>A	NP_690043.1:n.*953T>A
NM_001382700.1:c.*953T>A	NP_001369629.1:n.*953T>A
NM_001382701.1:c.*953T>A	NP_001369630.1:n.*953T>A
NM_001382702.1:c.*953T>A	NP_001369631.1:n.*953T>A
NR_168483.1:n.3252T>A