Canonical Allele Identifier: CA501184578

Gene: ACE

Linked Data

• dbSNP Id: rs1300293916
• gnomAD v2: 17-61564053-C-T
• gnomAD v4: 17-63486692-C-T
• MyVariant Identifiers: chr17:g.61564053C>T (hg19) ; chr17:g.63486692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486692C>T , CM000679.2:g.63486692C>T	GRCh38
NC_000017.10:g.61564053C>T , CM000679.1:g.61564053C>T	GRCh37
NC_000017.9:g.58917785C>T	NCBI36
NG_011648.1:g.14620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2194C>T MANE Select	ENSP00000290866.4:p.Leu732=
ENST00000290863.10:c.472C>T	ENSP00000290863.6:p.Leu158=
ENST00000290866.9:c.2194C>T	ENSP00000290866.4:p.Leu732=
ENST00000413513.7:c.472C>T	ENSP00000392247.3:p.Leu158=
ENST00000428043.5:c.2194C>T	ENSP00000397593.2:p.Leu732=
ENST00000577647.2:c.472C>T	ENSP00000464149.1:p.Leu158=
ENST00000578839.5:c.*264C>T	ENSP00000462110.2:n.*264C>T
ENST00000579204.1:c.375C>T	ENSP00000464629.1:n.375C>T
ENST00000579314.5:c.472C>T	ENSP00000462599.1:p.Leu158=
ENST00000579726.5:c.756C>T
ENST00000582005.5:c.*114C>T	ENSP00000462002.1:n.*114C>T
NM_000789.3:c.2194C>T	NP_000780.1:p.Leu732=
NM_001178057.1:c.472C>T	NP_001171528.1:p.Leu158=
NM_152830.2:c.472C>T	NP_690043.1:p.Leu158=
XM_005257110.1:c.1645C>T	XP_005257167.1:p.Leu549=
XM_006721737.2:c.532C>T	XP_006721800.2:p.Leu178=
XM_006721737.3:c.532C>T	XP_006721800.2:p.Leu178=
NM_000789.4:c.2194C>T MANE Select	NP_000780.1:p.Leu732=
NM_001178057.2:c.472C>T	NP_001171528.1:p.Leu158=
NM_152830.3:c.472C>T	NP_690043.1:p.Leu158=
NM_001382700.1:c.1627C>T	NP_001369629.1:p.Leu543=
NM_001382701.1:c.1342C>T	NP_001369630.1:p.Leu448=
NM_001382702.1:c.124C>T	NP_001369631.1:p.Leu42=
NR_168483.1:n.494C>T