Canonical Allele Identifier: CA2639263604

Gene: ACE

Linked Data

• gnomAD v4: 17-63488519-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488519A>T , CM000679.2:g.63488519A>T	GRCh38
NC_000017.10:g.61565880A>T , CM000679.1:g.61565880A>T	GRCh37
NC_000017.9:g.58919612A>T	NCBI36
NG_011648.1:g.16447A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2306-129A>T MANE Select	ENSP00000290866.4:n.2306-129A>T
ENST00000290863.10:c.584-129A>T	ENSP00000290863.6:n.584-129A>T
ENST00000290866.9:c.2306-129A>T	ENSP00000290866.4:n.2306-129A>T
ENST00000413513.7:c.584-129A>T	ENSP00000392247.3:n.584-129A>T
ENST00000428043.5:c.2306-129A>T	ENSP00000397593.2:n.2306-129A>T
ENST00000577647.2:c.584-129A>T	ENSP00000464149.1:n.584-129A>T
ENST00000578839.5:c.*376-129A>T	ENSP00000462110.2:n.*376-129A>T
ENST00000579204.1:c.487-51A>T	ENSP00000464629.1:n.487-51A>T
ENST00000579314.5:c.584-51A>T	ENSP00000462599.1:n.584-51A>T
ENST00000582005.5:c.*226-129A>T	ENSP00000462002.1:n.*226-129A>T
ENST00000582761.1:c.74-129A>T	ENSP00000462909.1:n.74-129A>T
ENST00000584865.5:n.252-129A>T
NM_000789.3:c.2306-129A>T	NP_000780.1:n.2306-129A>T
NM_001178057.1:c.584-129A>T	NP_001171528.1:n.584-129A>T
NM_152830.2:c.584-129A>T	NP_690043.1:n.584-129A>T
XM_005257110.1:c.1757-129A>T	XP_005257167.1:n.1757-129A>T
XM_006721737.2:c.644-129A>T	XP_006721800.2:n.644-129A>T
XM_006721737.3:c.644-129A>T	XP_006721800.2:n.644-129A>T
NM_000789.4:c.2306-129A>T MANE Select	NP_000780.1:n.2306-129A>T
NM_001178057.2:c.584-129A>T	NP_001171528.1:n.584-129A>T
NM_152830.3:c.584-129A>T	NP_690043.1:n.584-129A>T
NM_001382700.1:c.1739-129A>T	NP_001369629.1:n.1739-129A>T
NM_001382701.1:c.1454-129A>T	NP_001369630.1:n.1454-129A>T
NM_001382702.1:c.236-129A>T	NP_001369631.1:n.236-129A>T
NR_168483.1:n.606-51A>T