Canonical Allele Identifier: CA400556700

Gene: ACE

Linked Data

• dbSNP Id: rs1362206431
• gnomAD v3: 17-63487011-A-G
• gnomAD v4: 17-63487011-A-G
• MyVariant Identifiers: chr17:g.61564372A>G (hg19) ; chr17:g.63487011A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487011A>G , CM000679.2:g.63487011A>G	GRCh38
NC_000017.10:g.61564372A>G , CM000679.1:g.61564372A>G	GRCh37
NC_000017.9:g.58918104A>G	NCBI36
NG_011648.1:g.14939A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2243A>G MANE Select	ENSP00000290866.4:p.Glu748Gly
ENST00000290863.10:c.521A>G	ENSP00000290863.6:p.Glu174Gly
ENST00000290866.9:c.2243A>G	ENSP00000290866.4:p.Glu748Gly
ENST00000413513.7:c.521A>G	ENSP00000392247.3:p.Glu174Gly
ENST00000428043.5:c.2243A>G	ENSP00000397593.2:p.Glu748Gly
ENST00000577647.2:c.521A>G	ENSP00000464149.1:p.Glu174Gly
ENST00000578839.5:c.*313A>G	ENSP00000462110.2:n.*313A>G
ENST00000579204.1:c.424A>G	ENSP00000464629.1:n.424A>G
ENST00000579314.5:c.521A>G	ENSP00000462599.1:p.Glu174Gly
ENST00000579726.5:c.805A>G
ENST00000582005.5:c.*163A>G	ENSP00000462002.1:n.*163A>G
ENST00000582761.1:c.11A>G	ENSP00000462909.1:p.Glu4Gly
ENST00000584865.5:n.189A>G
NM_000789.3:c.2243A>G	NP_000780.1:p.Glu748Gly
NM_001178057.1:c.521A>G	NP_001171528.1:p.Glu174Gly
NM_152830.2:c.521A>G	NP_690043.1:p.Glu174Gly
XM_005257110.1:c.1694A>G	XP_005257167.1:p.Glu565Gly
XM_006721737.2:c.581A>G	XP_006721800.2:p.Glu194Gly
XM_006721737.3:c.581A>G	XP_006721800.2:p.Glu194Gly
NM_000789.4:c.2243A>G MANE Select	NP_000780.1:p.Glu748Gly
NM_001178057.2:c.521A>G	NP_001171528.1:p.Glu174Gly
NM_152830.3:c.521A>G	NP_690043.1:p.Glu174Gly
NM_001382700.1:c.1676A>G	NP_001369629.1:p.Glu559Gly
NM_001382701.1:c.1391A>G	NP_001369630.1:p.Glu464Gly
NM_001382702.1:c.173A>G	NP_001369631.1:p.Glu58Gly
NR_168483.1:n.543A>G