Canonical Allele Identifier: CA400549047

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559861C>T (hg19) ; chr17:g.63482500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482500C>T , CM000679.2:g.63482500C>T	GRCh38
NC_000017.10:g.61559861C>T , CM000679.1:g.61559861C>T	GRCh37
NC_000017.9:g.58913593C>T	NCBI36
NG_011648.1:g.10428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1153C>T MANE Select	ENSP00000290866.4:p.Leu385Phe
ENST00000290866.9:c.1153C>T	ENSP00000290866.4:p.Leu385Phe
ENST00000428043.5:c.1153C>T	ENSP00000397593.2:p.Leu385Phe
ENST00000582678.5:c.*552C>T	ENSP00000462995.1:n.*552C>T
ENST00000584529.5:n.1187C>T
NM_000789.3:c.1153C>T	NP_000780.1:p.Leu385Phe
XM_005257110.1:c.604C>T	XP_005257167.1:p.Leu202Phe
NM_000789.4:c.1153C>T MANE Select	NP_000780.1:p.Leu385Phe
NM_001382700.1:c.586C>T	NP_001369629.1:p.Leu196Phe
NM_001382701.1:c.301C>T	NP_001369630.1:p.Leu101Phe