Canonical Allele Identifier: CA400556653

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564368A>G (hg19) ; chr17:g.63487007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487007A>G , CM000679.2:g.63487007A>G	GRCh38
NC_000017.10:g.61564368A>G , CM000679.1:g.61564368A>G	GRCh37
NC_000017.9:g.58918100A>G	NCBI36
NG_011648.1:g.14935A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2239A>G MANE Select	ENSP00000290866.4:p.Met747Val
ENST00000290863.10:c.517A>G	ENSP00000290863.6:p.Met173Val
ENST00000290866.9:c.2239A>G	ENSP00000290866.4:p.Met747Val
ENST00000413513.7:c.517A>G	ENSP00000392247.3:p.Met173Val
ENST00000428043.5:c.2239A>G	ENSP00000397593.2:p.Met747Val
ENST00000577647.2:c.517A>G	ENSP00000464149.1:p.Met173Val
ENST00000578839.5:c.*309A>G	ENSP00000462110.2:n.*309A>G
ENST00000579204.1:c.420A>G	ENSP00000464629.1:n.420A>G
ENST00000579314.5:c.517A>G	ENSP00000462599.1:p.Met173Val
ENST00000579726.5:c.801A>G
ENST00000582005.5:c.*159A>G	ENSP00000462002.1:n.*159A>G
ENST00000582761.1:c.7A>G	ENSP00000462909.1:p.Met3Val
ENST00000584865.5:n.185A>G
NM_000789.3:c.2239A>G	NP_000780.1:p.Met747Val
NM_001178057.1:c.517A>G	NP_001171528.1:p.Met173Val
NM_152830.2:c.517A>G	NP_690043.1:p.Met173Val
XM_005257110.1:c.1690A>G	XP_005257167.1:p.Met564Val
XM_006721737.2:c.577A>G	XP_006721800.2:p.Met193Val
XM_006721737.3:c.577A>G	XP_006721800.2:p.Met193Val
NM_000789.4:c.2239A>G MANE Select	NP_000780.1:p.Met747Val
NM_001178057.2:c.517A>G	NP_001171528.1:p.Met173Val
NM_152830.3:c.517A>G	NP_690043.1:p.Met173Val
NM_001382700.1:c.1672A>G	NP_001369629.1:p.Met558Val
NM_001382701.1:c.1387A>G	NP_001369630.1:p.Met463Val
NM_001382702.1:c.169A>G	NP_001369631.1:p.Met57Val
NR_168483.1:n.539A>G