Canonical Allele Identifier: CA8699952

Gene: ACE

Linked Data

• dbSNP Id: rs139263584
• ExAC: 17:61564032 C / G
• gnomAD v2: 17-61564032-C-G
• gnomAD v3: 17-63486671-C-G
• gnomAD v4: 17-63486671-C-G
• MyVariant Identifiers: chr17:g.61564032C>G (hg19) ; chr17:g.63486671C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486671C>G , CM000679.2:g.63486671C>G	GRCh38
NC_000017.10:g.61564032C>G , CM000679.1:g.61564032C>G	GRCh37
NC_000017.9:g.58917764C>G	NCBI36
NG_011648.1:g.14599C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2173C>G MANE Select	ENSP00000290866.4:p.Gln725Glu
ENST00000290863.10:c.451C>G	ENSP00000290863.6:p.Gln151Glu
ENST00000290866.9:c.2173C>G	ENSP00000290866.4:p.Gln725Glu
ENST00000413513.7:c.451C>G	ENSP00000392247.3:p.Gln151Glu
ENST00000428043.5:c.2173C>G	ENSP00000397593.2:p.Gln725Glu
ENST00000577647.2:c.451C>G	ENSP00000464149.1:p.Gln151Glu
ENST00000578839.5:c.*243C>G	ENSP00000462110.2:n.*243C>G
ENST00000579204.1:c.354C>G	ENSP00000464629.1:n.354C>G
ENST00000579314.5:c.451C>G	ENSP00000462599.1:p.Gln151Glu
ENST00000579726.5:c.735C>G
ENST00000582005.5:c.*93C>G	ENSP00000462002.1:n.*93C>G
NM_000789.3:c.2173C>G	NP_000780.1:p.Gln725Glu
NM_001178057.1:c.451C>G	NP_001171528.1:p.Gln151Glu
NM_152830.2:c.451C>G	NP_690043.1:p.Gln151Glu
XM_005257110.1:c.1624C>G	XP_005257167.1:p.Gln542Glu
XM_006721737.2:c.511C>G	XP_006721800.2:p.Gln171Glu
XM_006721737.3:c.511C>G	XP_006721800.2:p.Gln171Glu
NM_000789.4:c.2173C>G MANE Select	NP_000780.1:p.Gln725Glu
NM_001178057.2:c.451C>G	NP_001171528.1:p.Gln151Glu
NM_152830.3:c.451C>G	NP_690043.1:p.Gln151Glu
NM_001382700.1:c.1606C>G	NP_001369629.1:p.Gln536Glu
NM_001382701.1:c.1321C>G	NP_001369630.1:p.Gln441Glu
NM_001382702.1:c.103C>G	NP_001369631.1:p.Gln35Glu
NR_168483.1:n.473C>G