Canonical Allele Identifier: CA400558097

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566150A>T (hg19) ; chr17:g.63488789A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488789A>T , CM000679.2:g.63488789A>T	GRCh38
NC_000017.10:g.61566150A>T , CM000679.1:g.61566150A>T	GRCh37
NC_000017.9:g.58919882A>T	NCBI36
NG_011648.1:g.16717A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2447A>T MANE Select	ENSP00000290866.4:p.Asn816Ile
ENST00000290863.10:c.725A>T	ENSP00000290863.6:p.Asn242Ile
ENST00000290866.9:c.2447A>T	ENSP00000290866.4:p.Asn816Ile
ENST00000413513.7:c.725A>T	ENSP00000392247.3:p.Asn242Ile
ENST00000428043.5:c.2447A>T	ENSP00000397593.2:p.Asn816Ile
ENST00000577647.2:c.725A>T	ENSP00000464149.1:p.Asn242Ile
ENST00000578839.5:c.*517A>T	ENSP00000462110.2:n.*517A>T
ENST00000579204.1:c.706A>T	ENSP00000464629.1:n.706A>T
ENST00000579314.5:c.*176A>T	ENSP00000462599.1:n.*176A>T
ENST00000582005.5:c.*367A>T	ENSP00000462002.1:n.*367A>T
ENST00000582761.1:c.215A>T	ENSP00000462909.1:p.Asn72Ile
ENST00000584865.5:n.393A>T
NM_000789.3:c.2447A>T	NP_000780.1:p.Asn816Ile
NM_001178057.1:c.725A>T	NP_001171528.1:p.Asn242Ile
NM_152830.2:c.725A>T	NP_690043.1:p.Asn242Ile
XM_005257110.1:c.1898A>T	XP_005257167.1:p.Asn633Ile
XM_006721737.2:c.785A>T	XP_006721800.2:p.Asn262Ile
XM_006721737.3:c.785A>T	XP_006721800.2:p.Asn262Ile
NM_000789.4:c.2447A>T MANE Select	NP_000780.1:p.Asn816Ile
NM_001178057.2:c.725A>T	NP_001171528.1:p.Asn242Ile
NM_152830.3:c.725A>T	NP_690043.1:p.Asn242Ile
NM_001382700.1:c.1880A>T	NP_001369629.1:p.Asn627Ile
NM_001382701.1:c.1595A>T	NP_001369630.1:p.Asn532Ile
NM_001382702.1:c.377A>T	NP_001369631.1:p.Asn126Ile
NR_168483.1:n.825A>T