Canonical Allele Identifier: CA400556429

Gene: ACE

Linked Data

• gnomAD v4: 17-63486716-G-T
• MyVariant Identifiers: chr17:g.61564077G>T (hg19) ; chr17:g.63486716G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486716G>T , CM000679.2:g.63486716G>T	GRCh38
NC_000017.10:g.61564077G>T , CM000679.1:g.61564077G>T	GRCh37
NC_000017.9:g.58917809G>T	NCBI36
NG_011648.1:g.14644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2217+1G>T MANE Select	ENSP00000290866.4:n.2217+1G>T
ENST00000290863.10:c.495+1G>T	ENSP00000290863.6:n.495+1G>T
ENST00000290866.9:c.2217+1G>T	ENSP00000290866.4:n.2217+1G>T
ENST00000413513.7:c.495+1G>T	ENSP00000392247.3:n.495+1G>T
ENST00000428043.5:c.2217+1G>T	ENSP00000397593.2:n.2217+1G>T
ENST00000577647.2:c.495+1G>T	ENSP00000464149.1:n.495+1G>T
ENST00000578839.5:c.*287+1G>T	ENSP00000462110.2:n.*287+1G>T
ENST00000579204.1:c.398+1G>T	ENSP00000464629.1:n.398+1G>T
ENST00000579314.5:c.495+1G>T	ENSP00000462599.1:n.495+1G>T
ENST00000579726.5:c.779+1G>T
ENST00000582005.5:c.*137+1G>T	ENSP00000462002.1:n.*137+1G>T
NM_000789.3:c.2217+1G>T	NP_000780.1:n.2217+1G>T
NM_001178057.1:c.495+1G>T	NP_001171528.1:n.495+1G>T
NM_152830.2:c.495+1G>T	NP_690043.1:n.495+1G>T
XM_005257110.1:c.1668+1G>T	XP_005257167.1:n.1668+1G>T
XM_006721737.2:c.555+1G>T	XP_006721800.2:n.555+1G>T
XM_006721737.3:c.555+1G>T	XP_006721800.2:n.555+1G>T
NM_000789.4:c.2217+1G>T MANE Select	NP_000780.1:n.2217+1G>T
NM_001178057.2:c.495+1G>T	NP_001171528.1:n.495+1G>T
NM_152830.3:c.495+1G>T	NP_690043.1:n.495+1G>T
NM_001382700.1:c.1650+1G>T	NP_001369629.1:n.1650+1G>T
NM_001382701.1:c.1365+1G>T	NP_001369630.1:n.1365+1G>T
NM_001382702.1:c.147+1G>T	NP_001369631.1:n.147+1G>T
NR_168483.1:n.517+1G>T