Canonical Allele Identifier: CA292881420

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486590C>T , CM000679.2:g.63486590C>T	GRCh38
NC_000017.10:g.61563951C>T , CM000679.1:g.61563951C>T	GRCh37
NC_000017.9:g.58917683C>T	NCBI36
NG_011648.1:g.14518C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.2092C>T MANE Select	NP_000780.1:p.Leu698=
ENST00000290866.10:c.2092C>T MANE Select	ENSP00000290866.4:p.Leu698=
NM_000789.3:c.2092C>T	NP_000780.1:p.Leu698=
NM_001178057.1:c.370C>T	NP_001171528.1:p.Leu124=
NM_001178057.2:c.370C>T	NP_001171528.1:p.Leu124=
NM_001382700.1:c.1525C>T	NP_001369629.1:p.Leu509=
NM_001382701.1:c.1240C>T	NP_001369630.1:p.Leu414=
NM_001382702.1:c.22C>T	NP_001369631.1:p.Leu8=
NM_152830.2:c.370C>T	NP_690043.1:p.Leu124=
NM_152830.3:c.370C>T	NP_690043.1:p.Leu124=
NR_168483.1:n.392C>T
ENST00000290863.10:c.370C>T	ENSP00000290863.6:p.Leu124=
ENST00000290866.9:c.2092C>T	ENSP00000290866.4:p.Leu698=
ENST00000413513.7:c.370C>T	ENSP00000392247.3:p.Leu124=
ENST00000428043.5:c.2092C>T	ENSP00000397593.2:p.Leu698=
ENST00000577647.2:c.370C>T	ENSP00000464149.1:p.Leu124=
ENST00000578839.5:c.*162C>T	ENSP00000462110.2:n.*162C>T
ENST00000579204.1:c.273C>T	ENSP00000464629.1:n.273C>T
ENST00000579314.5:c.370C>T	ENSP00000462599.1:p.Leu124=
ENST00000579726.5:c.654C>T
ENST00000582005.5:c.*12C>T	ENSP00000462002.1:n.*12C>T
XM_005257110.1:c.1543C>T	XP_005257167.1:p.Leu515=
XM_006721737.2:c.430C>T	XP_006721800.2:p.Leu144=
XM_006721737.3:c.430C>T	XP_006721800.2:p.Leu144=