Canonical Allele Identifier: CA400548771

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559835A>T (hg19) ; chr17:g.63482474A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482474A>T , CM000679.2:g.63482474A>T	GRCh38
NC_000017.10:g.61559835A>T , CM000679.1:g.61559835A>T	GRCh37
NC_000017.9:g.58913567A>T	NCBI36
NG_011648.1:g.10402A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1127A>T MANE Select	ENSP00000290866.4:p.Gln376Leu
ENST00000290866.9:c.1127A>T	ENSP00000290866.4:p.Gln376Leu
ENST00000428043.5:c.1127A>T	ENSP00000397593.2:p.Gln376Leu
ENST00000582678.5:c.*526A>T	ENSP00000462995.1:n.*526A>T
ENST00000584529.5:n.1161A>T
NM_000789.3:c.1127A>T	NP_000780.1:p.Gln376Leu
XM_005257110.1:c.578A>T	XP_005257167.1:p.Gln193Leu
NM_000789.4:c.1127A>T MANE Select	NP_000780.1:p.Gln376Leu
NM_001382700.1:c.560A>T	NP_001369629.1:p.Gln187Leu
NM_001382701.1:c.275A>T	NP_001369630.1:p.Gln92Leu