Canonical Allele Identifier: CA501187990

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566375C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489014C>A , CM000679.2:g.63489014C>A	GRCh38
NC_000017.10:g.61566375C>A , CM000679.1:g.61566375C>A	GRCh37
NC_000017.9:g.58920107C>A	NCBI36
NG_011648.1:g.16942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2523C>A MANE Select	ENSP00000290866.4:p.Leu841=
ENST00000290863.10:c.801C>A	ENSP00000290863.6:p.Leu267=
ENST00000290866.9:c.2523C>A	ENSP00000290866.4:p.Leu841=
ENST00000413513.7:c.801C>A	ENSP00000392247.3:p.Leu267=
ENST00000428043.5:c.2523C>A	ENSP00000397593.2:p.Leu841=
ENST00000577647.2:c.801C>A	ENSP00000464149.1:p.Leu267=
ENST00000578839.5:c.*519+223C>A	ENSP00000462110.2:n.*519+223C>A
ENST00000579204.1:c.782C>A	ENSP00000464629.1:n.782C>A
ENST00000579314.5:c.*252C>A	ENSP00000462599.1:n.*252C>A
ENST00000582005.5:c.*443C>A	ENSP00000462002.1:n.*443C>A
ENST00000582761.1:c.291C>A	ENSP00000462909.1:p.Leu97=
ENST00000584865.5:n.469C>A
NM_000789.3:c.2523C>A	NP_000780.1:p.Leu841=
NM_001178057.1:c.801C>A	NP_001171528.1:p.Leu267=
NM_152830.2:c.801C>A	NP_690043.1:p.Leu267=
XM_005257110.1:c.1974C>A	XP_005257167.1:p.Leu658=
XM_006721737.2:c.861C>A	XP_006721800.2:p.Leu287=
XM_006721737.3:c.861C>A	XP_006721800.2:p.Leu287=
NM_000789.4:c.2523C>A MANE Select	NP_000780.1:p.Leu841=
NM_001178057.2:c.801C>A	NP_001171528.1:p.Leu267=
NM_152830.3:c.801C>A	NP_690043.1:p.Leu267=
NM_001382700.1:c.1956C>A	NP_001369629.1:p.Leu652=
NM_001382701.1:c.1671C>A	NP_001369630.1:p.Leu557=
NM_001382702.1:c.379+223C>A	NP_001369631.1:n.379+223C>A
NR_168483.1:n.901C>A