Canonical Allele Identifier: CA501342493

Gene: ACE

Linked Data

• dbSNP Id: rs1481281618
• gnomAD v2: 17-61574673-C-T
• gnomAD v4: 17-63497312-C-T
• COSMIC: COSM5773811 ; COSM5773812
• MyVariant Identifiers: chr17:g.61574673C>T (hg19) ; chr17:g.63497312C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497312C>T , CM000679.2:g.63497312C>T	GRCh38
NC_000017.10:g.61574673C>T , CM000679.1:g.61574673C>T	GRCh37
NC_000017.9:g.58928405C>T	NCBI36
NG_011648.1:g.25240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3867C>T MANE Select	ENSP00000290866.4:p.His1289=
ENST00000290863.10:c.2145C>T	ENSP00000290863.6:p.His715=
ENST00000290866.9:c.3867C>T	ENSP00000290866.4:p.His1289=
ENST00000413513.7:c.2022C>T	ENSP00000392247.3:p.His674=
ENST00000428043.5:c.*289C>T	ENSP00000397593.2:n.*289C>T
ENST00000577647.2:c.1969+327C>T	ENSP00000464149.1:n.1969+327C>T
ENST00000578839.5:c.*1622C>T	ENSP00000462110.2:n.*1622C>T
ENST00000579314.5:c.*1596C>T	ENSP00000462599.1:n.*1596C>T
NM_000789.3:c.3867C>T	NP_000780.1:p.His1289=
NM_001178057.1:c.2022C>T	NP_001171528.1:p.His674=
NM_152830.2:c.2145C>T	NP_690043.1:p.His715=
XM_005257110.1:c.3318C>T	XP_005257167.1:p.His1106=
XM_006721737.2:c.2205C>T	XP_006721800.2:p.His735=
XM_006721737.3:c.2205C>T	XP_006721800.2:p.His735=
NM_000789.4:c.3867C>T MANE Select	NP_000780.1:p.His1289=
NM_001178057.2:c.2022C>T	NP_001171528.1:p.His674=
NM_152830.3:c.2145C>T	NP_690043.1:p.His715=
NM_001382700.1:c.3300C>T	NP_001369629.1:p.His1100=
NM_001382701.1:c.3015C>T	NP_001369630.1:p.His1005=
NM_001382702.1:c.1482C>T	NP_001369631.1:p.His494=
NR_168483.1:n.2245C>T