Canonical Allele Identifier: CA501188045

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566408G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489047G>A , CM000679.2:g.63489047G>A	GRCh38
NC_000017.10:g.61566408G>A , CM000679.1:g.61566408G>A	GRCh37
NC_000017.9:g.58920140G>A	NCBI36
NG_011648.1:g.16975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2556G>A MANE Select	ENSP00000290866.4:p.Leu852=
ENST00000290863.10:c.834G>A	ENSP00000290863.6:p.Leu278=
ENST00000290866.9:c.2556G>A	ENSP00000290866.4:p.Leu852=
ENST00000413513.7:c.834G>A	ENSP00000392247.3:p.Leu278=
ENST00000428043.5:c.2556G>A	ENSP00000397593.2:p.Leu852=
ENST00000577647.2:c.834G>A	ENSP00000464149.1:p.Leu278=
ENST00000578839.5:c.*519+256G>A	ENSP00000462110.2:n.*519+256G>A
ENST00000579314.5:c.*285G>A	ENSP00000462599.1:n.*285G>A
ENST00000582005.5:c.*476G>A	ENSP00000462002.1:n.*476G>A
ENST00000582761.1:c.324G>A	ENSP00000462909.1:p.Leu108=
ENST00000584865.5:n.502G>A
NM_000789.3:c.2556G>A	NP_000780.1:p.Leu852=
NM_001178057.1:c.834G>A	NP_001171528.1:p.Leu278=
NM_152830.2:c.834G>A	NP_690043.1:p.Leu278=
XM_005257110.1:c.2007G>A	XP_005257167.1:p.Leu669=
XM_006721737.2:c.894G>A	XP_006721800.2:p.Leu298=
XM_006721737.3:c.894G>A	XP_006721800.2:p.Leu298=
NM_000789.4:c.2556G>A MANE Select	NP_000780.1:p.Leu852=
NM_001178057.2:c.834G>A	NP_001171528.1:p.Leu278=
NM_152830.3:c.834G>A	NP_690043.1:p.Leu278=
NM_001382700.1:c.1989G>A	NP_001369629.1:p.Leu663=
NM_001382701.1:c.1704G>A	NP_001369630.1:p.Leu568=
NM_001382702.1:c.379+256G>A	NP_001369631.1:n.379+256G>A
NR_168483.1:n.934G>A