Canonical Allele Identifier: CA292890420

Gene: ACE

Linked Data

• dbSNP Id: rs963984458
• gnomAD v4: 17-63497180-C-T
• COSMIC: COSM5820397 ; COSM5820398
• MyVariant Identifiers: chr17:g.61574541C>T (hg19) ; chr17:g.63497180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497180C>T , CM000679.2:g.63497180C>T	GRCh38
NC_000017.10:g.61574541C>T , CM000679.1:g.61574541C>T	GRCh37
NC_000017.9:g.58928273C>T	NCBI36
NG_011648.1:g.25108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3735C>T MANE Select	ENSP00000290866.4:p.Phe1245=
ENST00000290863.10:c.2013C>T	ENSP00000290863.6:p.Phe671=
ENST00000290866.9:c.3735C>T	ENSP00000290866.4:p.Phe1245=
ENST00000413513.7:c.1890C>T	ENSP00000392247.3:p.Phe630=
ENST00000428043.5:c.*157C>T	ENSP00000397593.2:n.*157C>T
ENST00000577647.2:c.1969+195C>T	ENSP00000464149.1:n.1969+195C>T
ENST00000578839.5:c.*1490C>T	ENSP00000462110.2:n.*1490C>T
ENST00000579314.5:c.*1464C>T	ENSP00000462599.1:n.*1464C>T
NM_000789.3:c.3735C>T	NP_000780.1:p.Phe1245=
NM_001178057.1:c.1890C>T	NP_001171528.1:p.Phe630=
NM_152830.2:c.2013C>T	NP_690043.1:p.Phe671=
XM_005257110.1:c.3186C>T	XP_005257167.1:p.Phe1062=
XM_006721737.2:c.2073C>T	XP_006721800.2:p.Phe691=
XM_006721737.3:c.2073C>T	XP_006721800.2:p.Phe691=
NM_000789.4:c.3735C>T MANE Select	NP_000780.1:p.Phe1245=
NM_001178057.2:c.1890C>T	NP_001171528.1:p.Phe630=
NM_152830.3:c.2013C>T	NP_690043.1:p.Phe671=
NM_001382700.1:c.3168C>T	NP_001369629.1:p.Phe1056=
NM_001382701.1:c.2883C>T	NP_001369630.1:p.Phe961=
NM_001382702.1:c.1350C>T	NP_001369631.1:p.Phe450=
NR_168483.1:n.2113C>T