Canonical Allele Identifier: CA292881711

Gene: ACE

Linked Data

• dbSNP Id: rs3730032
• MyVariant Identifiers: chr17:g.61564230G>T (hg19) ; chr17:g.63486869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486869G>T , CM000679.2:g.63486869G>T	GRCh38
NC_000017.10:g.61564230G>T , CM000679.1:g.61564230G>T	GRCh37
NC_000017.9:g.58917962G>T	NCBI36
NG_011648.1:g.14797G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2218-117G>T MANE Select	ENSP00000290866.4:n.2218-117G>T
ENST00000290863.10:c.496-117G>T	ENSP00000290863.6:n.496-117G>T
ENST00000290866.9:c.2218-117G>T	ENSP00000290866.4:n.2218-117G>T
ENST00000413513.7:c.496-117G>T	ENSP00000392247.3:n.496-117G>T
ENST00000428043.5:c.2218-117G>T	ENSP00000397593.2:n.2218-117G>T
ENST00000577647.2:c.496-117G>T	ENSP00000464149.1:n.496-117G>T
ENST00000578839.5:c.*288-117G>T	ENSP00000462110.2:n.*288-117G>T
ENST00000579204.1:c.399-117G>T	ENSP00000464629.1:n.399-117G>T
ENST00000579314.5:c.496-117G>T	ENSP00000462599.1:n.496-117G>T
ENST00000579726.5:c.780-117G>T
ENST00000582005.5:c.*138-117G>T	ENSP00000462002.1:n.*138-117G>T
ENST00000584865.5:n.47G>T
NM_000789.3:c.2218-117G>T	NP_000780.1:n.2218-117G>T
NM_001178057.1:c.496-117G>T	NP_001171528.1:n.496-117G>T
NM_152830.2:c.496-117G>T	NP_690043.1:n.496-117G>T
XM_005257110.1:c.1669-117G>T	XP_005257167.1:n.1669-117G>T
XM_006721737.2:c.556-117G>T	XP_006721800.2:n.556-117G>T
XM_006721737.3:c.556-117G>T	XP_006721800.2:n.556-117G>T
NM_000789.4:c.2218-117G>T MANE Select	NP_000780.1:n.2218-117G>T
NM_001178057.2:c.496-117G>T	NP_001171528.1:n.496-117G>T
NM_152830.3:c.496-117G>T	NP_690043.1:n.496-117G>T
NM_001382700.1:c.1651-117G>T	NP_001369629.1:n.1651-117G>T
NM_001382701.1:c.1366-117G>T	NP_001369630.1:n.1366-117G>T
NM_001382702.1:c.148-117G>T	NP_001369631.1:n.148-117G>T
NR_168483.1:n.518-117G>T