Canonical Allele Identifier: CA400558013

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566115A>T (hg19) ; chr17:g.63488754A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488754A>T , CM000679.2:g.63488754A>T	GRCh38
NC_000017.10:g.61566115A>T , CM000679.1:g.61566115A>T	GRCh37
NC_000017.9:g.58919847A>T	NCBI36
NG_011648.1:g.16682A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2412A>T MANE Select	ENSP00000290866.4:p.Lys804Asn
ENST00000290863.10:c.690A>T	ENSP00000290863.6:p.Lys230Asn
ENST00000290866.9:c.2412A>T	ENSP00000290866.4:p.Lys804Asn
ENST00000413513.7:c.690A>T	ENSP00000392247.3:p.Lys230Asn
ENST00000428043.5:c.2412A>T	ENSP00000397593.2:p.Lys804Asn
ENST00000577647.2:c.690A>T	ENSP00000464149.1:p.Lys230Asn
ENST00000578839.5:c.*482A>T	ENSP00000462110.2:n.*482A>T
ENST00000579204.1:c.671A>T	ENSP00000464629.1:n.671A>T
ENST00000579314.5:c.*141A>T	ENSP00000462599.1:n.*141A>T
ENST00000582005.5:c.*332A>T	ENSP00000462002.1:n.*332A>T
ENST00000582761.1:c.180A>T	ENSP00000462909.1:p.Lys60Asn
ENST00000584865.5:n.358A>T
NM_000789.3:c.2412A>T	NP_000780.1:p.Lys804Asn
NM_001178057.1:c.690A>T	NP_001171528.1:p.Lys230Asn
NM_152830.2:c.690A>T	NP_690043.1:p.Lys230Asn
XM_005257110.1:c.1863A>T	XP_005257167.1:p.Lys621Asn
XM_006721737.2:c.750A>T	XP_006721800.2:p.Lys250Asn
XM_006721737.3:c.750A>T	XP_006721800.2:p.Lys250Asn
NM_000789.4:c.2412A>T MANE Select	NP_000780.1:p.Lys804Asn
NM_001178057.2:c.690A>T	NP_001171528.1:p.Lys230Asn
NM_152830.3:c.690A>T	NP_690043.1:p.Lys230Asn
NM_001382700.1:c.1845A>T	NP_001369629.1:p.Lys615Asn
NM_001382701.1:c.1560A>T	NP_001369630.1:p.Lys520Asn
NM_001382702.1:c.342A>T	NP_001369631.1:p.Lys114Asn
NR_168483.1:n.790A>T