Canonical Allele Identifier: CA400566519

Gene: ACE

Linked Data

• gnomAD v4: 17-63496805-A-G
• MyVariant Identifiers: chr17:g.61574166A>G (hg19) ; chr17:g.63496805A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496805A>G , CM000679.2:g.63496805A>G	GRCh38
NC_000017.10:g.61574166A>G , CM000679.1:g.61574166A>G	GRCh37
NC_000017.9:g.58927898A>G	NCBI36
NG_011648.1:g.24733A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3511A>G MANE Select	ENSP00000290866.4:p.Met1171Val
ENST00000290863.10:c.1789A>G	ENSP00000290863.6:p.Met597Val
ENST00000290866.9:c.3511A>G	ENSP00000290866.4:p.Met1171Val
ENST00000413513.7:c.1666A>G	ENSP00000392247.3:p.Met556Val
ENST00000428043.5:c.3511A>G	ENSP00000397593.2:p.Met1171Val
ENST00000577418.5:n.521A>G
ENST00000577647.2:c.1789A>G	ENSP00000464149.1:p.Met597Val
ENST00000578839.5:c.*1266A>G	ENSP00000462110.2:n.*1266A>G
ENST00000579314.5:c.*1240A>G	ENSP00000462599.1:n.*1240A>G
ENST00000579409.1:c.198A>G
ENST00000582244.1:n.385A>G
NM_000789.3:c.3511A>G	NP_000780.1:p.Met1171Val
NM_001178057.1:c.1666A>G	NP_001171528.1:p.Met556Val
NM_152830.2:c.1789A>G	NP_690043.1:p.Met597Val
XM_005257110.1:c.2962A>G	XP_005257167.1:p.Met988Val
XM_006721737.2:c.1849A>G	XP_006721800.2:p.Met617Val
XM_006721737.3:c.1849A>G	XP_006721800.2:p.Met617Val
NM_000789.4:c.3511A>G MANE Select	NP_000780.1:p.Met1171Val
NM_001178057.2:c.1666A>G	NP_001171528.1:p.Met556Val
NM_152830.3:c.1789A>G	NP_690043.1:p.Met597Val
NM_001382700.1:c.2944A>G	NP_001369629.1:p.Met982Val
NM_001382701.1:c.2659A>G	NP_001369630.1:p.Met887Val
NM_001382702.1:c.1126A>G	NP_001369631.1:p.Met376Val
NR_168483.1:n.1889A>G