Canonical Allele Identifier: CA400548754

Gene: ACE

Linked Data

• COSMIC: COSM362901
• MyVariant Identifiers: chr17:g.61559833G>T (hg19) ; chr17:g.63482472G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482472G>T , CM000679.2:g.63482472G>T	GRCh38
NC_000017.10:g.61559833G>T , CM000679.1:g.61559833G>T	GRCh37
NC_000017.9:g.58913565G>T	NCBI36
NG_011648.1:g.10400G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1125G>T MANE Select	ENSP00000290866.4:p.Lys375Asn
ENST00000290866.9:c.1125G>T	ENSP00000290866.4:p.Lys375Asn
ENST00000428043.5:c.1125G>T	ENSP00000397593.2:p.Lys375Asn
ENST00000582678.5:c.*524G>T	ENSP00000462995.1:n.*524G>T
ENST00000584529.5:n.1159G>T
NM_000789.3:c.1125G>T	NP_000780.1:p.Lys375Asn
XM_005257110.1:c.576G>T	XP_005257167.1:p.Lys192Asn
NM_000789.4:c.1125G>T MANE Select	NP_000780.1:p.Lys375Asn
NM_001382700.1:c.558G>T	NP_001369629.1:p.Lys186Asn
NM_001382701.1:c.273G>T	NP_001369630.1:p.Lys91Asn