Canonical Allele Identifier: CA501341521

Gene: ACE

Linked Data

• gnomAD v4: 17-63478060-C-T
• MyVariant Identifiers: chr17:g.61555421C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478060C>T , CM000679.2:g.63478060C>T	GRCh38
NC_000017.10:g.61555421C>T , CM000679.1:g.61555421C>T	GRCh37
NC_000017.9:g.58909153C>T	NCBI36
NG_011648.1:g.5988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.379C>T MANE Select	ENSP00000290866.4:p.Leu127=
ENST00000290866.9:c.379C>T	ENSP00000290866.4:p.Leu127=
ENST00000428043.5:c.379C>T	ENSP00000397593.2:p.Leu127=
ENST00000579462.1:n.404C>T
ENST00000580318.1:n.568C>T
ENST00000582627.1:c.379C>T	ENSP00000462280.1:p.Leu127=
ENST00000582678.5:c.379C>T	ENSP00000462995.1:p.Leu127=
ENST00000583336.5:n.413C>T
ENST00000584529.5:n.413C>T
NM_000789.3:c.379C>T	NP_000780.1:p.Leu127=
XM_005257110.1:c.-77C>T	XP_005257167.1:n.-77C>T
NM_000789.4:c.379C>T MANE Select	NP_000780.1:p.Leu127=
NM_001382700.1:c.144C>T	NP_001369629.1:p.Pro48=
NM_001382701.1:c.-236C>T	NP_001369630.1:n.-236C>T