Canonical Allele Identifier: CA400569362

Gene: ACE

Linked Data

• gnomAD v4: 17-63497302-G-T
• MyVariant Identifiers: chr17:g.61574663G>T (hg19) ; chr17:g.63497302G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497302G>T , CM000679.2:g.63497302G>T	GRCh38
NC_000017.10:g.61574663G>T , CM000679.1:g.61574663G>T	GRCh37
NC_000017.9:g.58928395G>T	NCBI36
NG_011648.1:g.25230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3857G>T MANE Select	ENSP00000290866.4:p.Arg1286Leu
ENST00000290863.10:c.2135G>T	ENSP00000290863.6:p.Arg712Leu
ENST00000290866.9:c.3857G>T	ENSP00000290866.4:p.Arg1286Leu
ENST00000413513.7:c.2012G>T	ENSP00000392247.3:p.Arg671Leu
ENST00000428043.5:c.*279G>T	ENSP00000397593.2:n.*279G>T
ENST00000577647.2:c.1969+317G>T	ENSP00000464149.1:n.1969+317G>T
ENST00000578839.5:c.*1612G>T	ENSP00000462110.2:n.*1612G>T
ENST00000579314.5:c.*1586G>T	ENSP00000462599.1:n.*1586G>T
NM_000789.3:c.3857G>T	NP_000780.1:p.Arg1286Leu
NM_001178057.1:c.2012G>T	NP_001171528.1:p.Arg671Leu
NM_152830.2:c.2135G>T	NP_690043.1:p.Arg712Leu
XM_005257110.1:c.3308G>T	XP_005257167.1:p.Arg1103Leu
XM_006721737.2:c.2195G>T	XP_006721800.2:p.Arg732Leu
XM_006721737.3:c.2195G>T	XP_006721800.2:p.Arg732Leu
NM_000789.4:c.3857G>T MANE Select	NP_000780.1:p.Arg1286Leu
NM_001178057.2:c.2012G>T	NP_001171528.1:p.Arg671Leu
NM_152830.3:c.2135G>T	NP_690043.1:p.Arg712Leu
NM_001382700.1:c.3290G>T	NP_001369629.1:p.Arg1097Leu
NM_001382701.1:c.3005G>T	NP_001369630.1:p.Arg1002Leu
NM_001382702.1:c.1472G>T	NP_001369631.1:p.Arg491Leu
NR_168483.1:n.2235G>T