Canonical Allele Identifier: CA8700637

Gene: ACE

Linked Data

• dbSNP Id: rs376323309
• ExAC: 17:61574491 C / T
• gnomAD v2: 17-61574491-C-T
• gnomAD v3: 17-63497130-C-T
• gnomAD v4: 17-63497130-C-T
• MyVariant Identifiers: chr17:g.61574491C>T (hg19) ; chr17:g.63497130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497130C>T , CM000679.2:g.63497130C>T	GRCh38
NC_000017.10:g.61574491C>T , CM000679.1:g.61574491C>T	GRCh37
NC_000017.9:g.58928223C>T	NCBI36
NG_011648.1:g.25058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3692-7C>T MANE Select	ENSP00000290866.4:n.3692-7C>T
ENST00000290863.10:c.1970-7C>T	ENSP00000290863.6:n.1970-7C>T
ENST00000290866.9:c.3692-7C>T	ENSP00000290866.4:n.3692-7C>T
ENST00000413513.7:c.1847-7C>T	ENSP00000392247.3:n.1847-7C>T
ENST00000428043.5:c.*107C>T	ENSP00000397593.2:n.*107C>T
ENST00000577418.5:n.702-7C>T
ENST00000577647.2:c.1969+145C>T	ENSP00000464149.1:n.1969+145C>T
ENST00000578839.5:c.*1447-7C>T	ENSP00000462110.2:n.*1447-7C>T
ENST00000579314.5:c.*1421-7C>T	ENSP00000462599.1:n.*1421-7C>T
ENST00000579409.1:c.523C>T
NM_000789.3:c.3692-7C>T	NP_000780.1:n.3692-7C>T
NM_001178057.1:c.1847-7C>T	NP_001171528.1:n.1847-7C>T
NM_152830.2:c.1970-7C>T	NP_690043.1:n.1970-7C>T
XM_005257110.1:c.3143-7C>T	XP_005257167.1:n.3143-7C>T
XM_006721737.2:c.2030-7C>T	XP_006721800.2:n.2030-7C>T
XM_006721737.3:c.2030-7C>T	XP_006721800.2:n.2030-7C>T
NM_000789.4:c.3692-7C>T MANE Select	NP_000780.1:n.3692-7C>T
NM_001178057.2:c.1847-7C>T	NP_001171528.1:n.1847-7C>T
NM_152830.3:c.1970-7C>T	NP_690043.1:n.1970-7C>T
NM_001382700.1:c.3125-7C>T	NP_001369629.1:n.3125-7C>T
NM_001382701.1:c.2840-7C>T	NP_001369630.1:n.2840-7C>T
NM_001382702.1:c.1307-7C>T	NP_001369631.1:n.1307-7C>T
NR_168483.1:n.2070-7C>T