Canonical Allele Identifier: CA2639263712

Gene: ACE

Linked Data

• gnomAD v4: 17-63488862-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488862C>T , CM000679.2:g.63488862C>T	GRCh38
NC_000017.10:g.61566223C>T , CM000679.1:g.61566223C>T	GRCh37
NC_000017.9:g.58919955C>T	NCBI36
NG_011648.1:g.16790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2449+71C>T MANE Select	ENSP00000290866.4:n.2449+71C>T
ENST00000290863.10:c.727+71C>T	ENSP00000290863.6:n.727+71C>T
ENST00000290866.9:c.2449+71C>T	ENSP00000290866.4:n.2449+71C>T
ENST00000413513.7:c.727+71C>T	ENSP00000392247.3:n.727+71C>T
ENST00000428043.5:c.2449+71C>T	ENSP00000397593.2:n.2449+71C>T
ENST00000577647.2:c.727+71C>T	ENSP00000464149.1:n.727+71C>T
ENST00000578839.5:c.*519+71C>T	ENSP00000462110.2:n.*519+71C>T
ENST00000579204.1:c.708+71C>T	ENSP00000464629.1:n.708+71C>T
ENST00000579314.5:c.*178+71C>T	ENSP00000462599.1:n.*178+71C>T
ENST00000582005.5:c.*369+71C>T	ENSP00000462002.1:n.*369+71C>T
ENST00000582761.1:c.217+71C>T	ENSP00000462909.1:n.217+71C>T
ENST00000584865.5:n.395+71C>T
NM_000789.3:c.2449+71C>T	NP_000780.1:n.2449+71C>T
NM_001178057.1:c.727+71C>T	NP_001171528.1:n.727+71C>T
NM_152830.2:c.727+71C>T	NP_690043.1:n.727+71C>T
XM_005257110.1:c.1900+71C>T	XP_005257167.1:n.1900+71C>T
XM_006721737.2:c.787+71C>T	XP_006721800.2:n.787+71C>T
XM_006721737.3:c.787+71C>T	XP_006721800.2:n.787+71C>T
NM_000789.4:c.2449+71C>T MANE Select	NP_000780.1:n.2449+71C>T
NM_001178057.2:c.727+71C>T	NP_001171528.1:n.727+71C>T
NM_152830.3:c.727+71C>T	NP_690043.1:n.727+71C>T
NM_001382700.1:c.1882+71C>T	NP_001369629.1:n.1882+71C>T
NM_001382701.1:c.1597+71C>T	NP_001369630.1:n.1597+71C>T
NM_001382702.1:c.379+71C>T	NP_001369631.1:n.379+71C>T
NR_168483.1:n.827+71C>T