Canonical Allele Identifier: CA292890451

Gene: ACE

Linked Data

• dbSNP Id: rs1054697649
• gnomAD v2: 17-61574625-C-T
• gnomAD v4: 17-63497264-C-T
• MyVariant Identifiers: chr17:g.61574625C>T (hg19) ; chr17:g.63497264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497264C>T , CM000679.2:g.63497264C>T	GRCh38
NC_000017.10:g.61574625C>T , CM000679.1:g.61574625C>T	GRCh37
NC_000017.9:g.58928357C>T	NCBI36
NG_011648.1:g.25192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3819C>T MANE Select	ENSP00000290866.4:p.Thr1273=
ENST00000290863.10:c.2097C>T	ENSP00000290863.6:p.Thr699=
ENST00000290866.9:c.3819C>T	ENSP00000290866.4:p.Thr1273=
ENST00000413513.7:c.1974C>T	ENSP00000392247.3:p.Thr658=
ENST00000428043.5:c.*241C>T	ENSP00000397593.2:n.*241C>T
ENST00000577647.2:c.1969+279C>T	ENSP00000464149.1:n.1969+279C>T
ENST00000578839.5:c.*1574C>T	ENSP00000462110.2:n.*1574C>T
ENST00000579314.5:c.*1548C>T	ENSP00000462599.1:n.*1548C>T
NM_000789.3:c.3819C>T	NP_000780.1:p.Thr1273=
NM_001178057.1:c.1974C>T	NP_001171528.1:p.Thr658=
NM_152830.2:c.2097C>T	NP_690043.1:p.Thr699=
XM_005257110.1:c.3270C>T	XP_005257167.1:p.Thr1090=
XM_006721737.2:c.2157C>T	XP_006721800.2:p.Thr719=
XM_006721737.3:c.2157C>T	XP_006721800.2:p.Thr719=
NM_000789.4:c.3819C>T MANE Select	NP_000780.1:p.Thr1273=
NM_001178057.2:c.1974C>T	NP_001171528.1:p.Thr658=
NM_152830.3:c.2097C>T	NP_690043.1:p.Thr699=
NM_001382700.1:c.3252C>T	NP_001369629.1:p.Thr1084=
NM_001382701.1:c.2967C>T	NP_001369630.1:p.Thr989=
NM_001382702.1:c.1434C>T	NP_001369631.1:p.Thr478=
NR_168483.1:n.2197C>T