Canonical Allele Identifier: CA400558580

Gene: ACE

Linked Data

• gnomAD v4: 17-63489054-T-A
• MyVariant Identifiers: chr17:g.61566415T>A (hg19) ; chr17:g.63489054T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489054T>A , CM000679.2:g.63489054T>A	GRCh38
NC_000017.10:g.61566415T>A , CM000679.1:g.61566415T>A	GRCh37
NC_000017.9:g.58920147T>A	NCBI36
NG_011648.1:g.16982T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2563T>A MANE Select	ENSP00000290866.4:p.Tyr855Asn
ENST00000290863.10:c.841T>A	ENSP00000290863.6:p.Tyr281Asn
ENST00000290866.9:c.2563T>A	ENSP00000290866.4:p.Tyr855Asn
ENST00000413513.7:c.841T>A	ENSP00000392247.3:p.Tyr281Asn
ENST00000428043.5:c.2563T>A	ENSP00000397593.2:p.Tyr855Asn
ENST00000577647.2:c.841T>A	ENSP00000464149.1:p.Tyr281Asn
ENST00000578839.5:c.*519+263T>A	ENSP00000462110.2:n.*519+263T>A
ENST00000579314.5:c.*292T>A	ENSP00000462599.1:n.*292T>A
ENST00000582005.5:c.*483T>A	ENSP00000462002.1:n.*483T>A
ENST00000582761.1:c.331T>A	ENSP00000462909.1:p.Tyr111Asn
ENST00000584865.5:n.509T>A
NM_000789.3:c.2563T>A	NP_000780.1:p.Tyr855Asn
NM_001178057.1:c.841T>A	NP_001171528.1:p.Tyr281Asn
NM_152830.2:c.841T>A	NP_690043.1:p.Tyr281Asn
XM_005257110.1:c.2014T>A	XP_005257167.1:p.Tyr672Asn
XM_006721737.2:c.901T>A	XP_006721800.2:p.Tyr301Asn
XM_006721737.3:c.901T>A	XP_006721800.2:p.Tyr301Asn
NM_000789.4:c.2563T>A MANE Select	NP_000780.1:p.Tyr855Asn
NM_001178057.2:c.841T>A	NP_001171528.1:p.Tyr281Asn
NM_152830.3:c.841T>A	NP_690043.1:p.Tyr281Asn
NM_001382700.1:c.1996T>A	NP_001369629.1:p.Tyr666Asn
NM_001382701.1:c.1711T>A	NP_001369630.1:p.Tyr571Asn
NM_001382702.1:c.379+263T>A	NP_001369631.1:n.379+263T>A
NR_168483.1:n.941T>A