Canonical Allele Identifier: CA400568490

Gene: ACE

Linked Data

• gnomAD v4: 17-63497179-T-G
• MyVariant Identifiers: chr17:g.61574540T>G (hg19) ; chr17:g.63497179T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497179T>G , CM000679.2:g.63497179T>G	GRCh38
NC_000017.10:g.61574540T>G , CM000679.1:g.61574540T>G	GRCh37
NC_000017.9:g.58928272T>G	NCBI36
NG_011648.1:g.25107T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3734T>G MANE Select	ENSP00000290866.4:p.Phe1245Cys
ENST00000290863.10:c.2012T>G	ENSP00000290863.6:p.Phe671Cys
ENST00000290866.9:c.3734T>G	ENSP00000290866.4:p.Phe1245Cys
ENST00000413513.7:c.1889T>G	ENSP00000392247.3:p.Phe630Cys
ENST00000428043.5:c.*156T>G	ENSP00000397593.2:n.*156T>G
ENST00000577647.2:c.1969+194T>G	ENSP00000464149.1:n.1969+194T>G
ENST00000578839.5:c.*1489T>G	ENSP00000462110.2:n.*1489T>G
ENST00000579314.5:c.*1463T>G	ENSP00000462599.1:n.*1463T>G
NM_000789.3:c.3734T>G	NP_000780.1:p.Phe1245Cys
NM_001178057.1:c.1889T>G	NP_001171528.1:p.Phe630Cys
NM_152830.2:c.2012T>G	NP_690043.1:p.Phe671Cys
XM_005257110.1:c.3185T>G	XP_005257167.1:p.Phe1062Cys
XM_006721737.2:c.2072T>G	XP_006721800.2:p.Phe691Cys
XM_006721737.3:c.2072T>G	XP_006721800.2:p.Phe691Cys
NM_000789.4:c.3734T>G MANE Select	NP_000780.1:p.Phe1245Cys
NM_001178057.2:c.1889T>G	NP_001171528.1:p.Phe630Cys
NM_152830.3:c.2012T>G	NP_690043.1:p.Phe671Cys
NM_001382700.1:c.3167T>G	NP_001369629.1:p.Phe1056Cys
NM_001382701.1:c.2882T>G	NP_001369630.1:p.Phe961Cys
NM_001382702.1:c.1349T>G	NP_001369631.1:p.Phe450Cys
NR_168483.1:n.2112T>G