Canonical Allele Identifier: CA501184367

Gene: ACE

Linked Data

• gnomAD v4: 17-63486655-G-T
• MyVariant Identifiers: chr17:g.61564016G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486655G>T , CM000679.2:g.63486655G>T	GRCh38
NC_000017.10:g.61564016G>T , CM000679.1:g.61564016G>T	GRCh37
NC_000017.9:g.58917748G>T	NCBI36
NG_011648.1:g.14583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2157G>T MANE Select	ENSP00000290866.4:p.Arg719=
ENST00000290863.10:c.435G>T	ENSP00000290863.6:p.Arg145=
ENST00000290866.9:c.2157G>T	ENSP00000290866.4:p.Arg719=
ENST00000413513.7:c.435G>T	ENSP00000392247.3:p.Arg145=
ENST00000428043.5:c.2157G>T	ENSP00000397593.2:p.Arg719=
ENST00000577647.2:c.435G>T	ENSP00000464149.1:p.Arg145=
ENST00000578839.5:c.*227G>T	ENSP00000462110.2:n.*227G>T
ENST00000579204.1:c.338G>T	ENSP00000464629.1:n.338G>T
ENST00000579314.5:c.435G>T	ENSP00000462599.1:p.Arg145=
ENST00000579726.5:c.719G>T
ENST00000582005.5:c.*77G>T	ENSP00000462002.1:n.*77G>T
NM_000789.3:c.2157G>T	NP_000780.1:p.Arg719=
NM_001178057.1:c.435G>T	NP_001171528.1:p.Arg145=
NM_152830.2:c.435G>T	NP_690043.1:p.Arg145=
XM_005257110.1:c.1608G>T	XP_005257167.1:p.Arg536=
XM_006721737.2:c.495G>T	XP_006721800.2:p.Arg165=
XM_006721737.3:c.495G>T	XP_006721800.2:p.Arg165=
NM_000789.4:c.2157G>T MANE Select	NP_000780.1:p.Arg719=
NM_001178057.2:c.435G>T	NP_001171528.1:p.Arg145=
NM_152830.3:c.435G>T	NP_690043.1:p.Arg145=
NM_001382700.1:c.1590G>T	NP_001369629.1:p.Arg530=
NM_001382701.1:c.1305G>T	NP_001369630.1:p.Arg435=
NM_001382702.1:c.87G>T	NP_001369631.1:p.Arg29=
NR_168483.1:n.457G>T