Canonical Allele Identifier: CA400567530

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574291C>A (hg19) ; chr17:g.63496930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496930C>A , CM000679.2:g.63496930C>A	GRCh38
NC_000017.10:g.61574291C>A , CM000679.1:g.61574291C>A	GRCh37
NC_000017.9:g.58928023C>A	NCBI36
NG_011648.1:g.24858C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3636C>A MANE Select	ENSP00000290866.4:p.Asn1212Lys
ENST00000290863.10:c.1914C>A	ENSP00000290863.6:p.Asn638Lys
ENST00000290866.9:c.3636C>A	ENSP00000290866.4:p.Asn1212Lys
ENST00000413513.7:c.1791C>A	ENSP00000392247.3:p.Asn597Lys
ENST00000428043.5:c.3636C>A	ENSP00000397593.2:p.Asn1212Lys
ENST00000577418.5:n.646C>A
ENST00000577647.2:c.1914C>A	ENSP00000464149.1:p.Asn638Lys
ENST00000578839.5:c.*1391C>A	ENSP00000462110.2:n.*1391C>A
ENST00000579314.5:c.*1365C>A	ENSP00000462599.1:n.*1365C>A
ENST00000579409.1:c.323C>A
ENST00000582244.1:n.510C>A
NM_000789.3:c.3636C>A	NP_000780.1:p.Asn1212Lys
NM_001178057.1:c.1791C>A	NP_001171528.1:p.Asn597Lys
NM_152830.2:c.1914C>A	NP_690043.1:p.Asn638Lys
XM_005257110.1:c.3087C>A	XP_005257167.1:p.Asn1029Lys
XM_006721737.2:c.1974C>A	XP_006721800.2:p.Asn658Lys
XM_006721737.3:c.1974C>A	XP_006721800.2:p.Asn658Lys
NM_000789.4:c.3636C>A MANE Select	NP_000780.1:p.Asn1212Lys
NM_001178057.2:c.1791C>A	NP_001171528.1:p.Asn597Lys
NM_152830.3:c.1914C>A	NP_690043.1:p.Asn638Lys
NM_001382700.1:c.3069C>A	NP_001369629.1:p.Asn1023Lys
NM_001382701.1:c.2784C>A	NP_001369630.1:p.Asn928Lys
NM_001382702.1:c.1251C>A	NP_001369631.1:p.Asn417Lys
NR_168483.1:n.2014C>A