Canonical Allele Identifier: CA400557973

Gene: ACE

Linked Data

• gnomAD v4: 17-63488737-C-G
• MyVariant Identifiers: chr17:g.61566098C>G (hg19) ; chr17:g.63488737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488737C>G , CM000679.2:g.63488737C>G	GRCh38
NC_000017.10:g.61566098C>G , CM000679.1:g.61566098C>G	GRCh37
NC_000017.9:g.58919830C>G	NCBI36
NG_011648.1:g.16665C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2395C>G MANE Select	ENSP00000290866.4:p.Leu799Val
ENST00000290863.10:c.673C>G	ENSP00000290863.6:p.Leu225Val
ENST00000290866.9:c.2395C>G	ENSP00000290866.4:p.Leu799Val
ENST00000413513.7:c.673C>G	ENSP00000392247.3:p.Leu225Val
ENST00000428043.5:c.2395C>G	ENSP00000397593.2:p.Leu799Val
ENST00000577647.2:c.673C>G	ENSP00000464149.1:p.Leu225Val
ENST00000578839.5:c.*465C>G	ENSP00000462110.2:n.*465C>G
ENST00000579204.1:c.654C>G	ENSP00000464629.1:n.654C>G
ENST00000579314.5:c.*124C>G	ENSP00000462599.1:n.*124C>G
ENST00000582005.5:c.*315C>G	ENSP00000462002.1:n.*315C>G
ENST00000582761.1:c.163C>G	ENSP00000462909.1:p.Leu55Val
ENST00000584865.5:n.341C>G
NM_000789.3:c.2395C>G	NP_000780.1:p.Leu799Val
NM_001178057.1:c.673C>G	NP_001171528.1:p.Leu225Val
NM_152830.2:c.673C>G	NP_690043.1:p.Leu225Val
XM_005257110.1:c.1846C>G	XP_005257167.1:p.Leu616Val
XM_006721737.2:c.733C>G	XP_006721800.2:p.Leu245Val
XM_006721737.3:c.733C>G	XP_006721800.2:p.Leu245Val
NM_000789.4:c.2395C>G MANE Select	NP_000780.1:p.Leu799Val
NM_001178057.2:c.673C>G	NP_001171528.1:p.Leu225Val
NM_152830.3:c.673C>G	NP_690043.1:p.Leu225Val
NM_001382700.1:c.1828C>G	NP_001369629.1:p.Leu610Val
NM_001382701.1:c.1543C>G	NP_001369630.1:p.Leu515Val
NM_001382702.1:c.325C>G	NP_001369631.1:p.Leu109Val
NR_168483.1:n.773C>G