Canonical Allele Identifier: CA400558070

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566141C>G (hg19) ; chr17:g.63488780C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488780C>G , CM000679.2:g.63488780C>G	GRCh38
NC_000017.10:g.61566141C>G , CM000679.1:g.61566141C>G	GRCh37
NC_000017.9:g.58919873C>G	NCBI36
NG_011648.1:g.16708C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2438C>G MANE Select	ENSP00000290866.4:p.Ala813Gly
ENST00000290863.10:c.716C>G	ENSP00000290863.6:p.Ala239Gly
ENST00000290866.9:c.2438C>G	ENSP00000290866.4:p.Ala813Gly
ENST00000413513.7:c.716C>G	ENSP00000392247.3:p.Ala239Gly
ENST00000428043.5:c.2438C>G	ENSP00000397593.2:p.Ala813Gly
ENST00000577647.2:c.716C>G	ENSP00000464149.1:p.Ala239Gly
ENST00000578839.5:c.*508C>G	ENSP00000462110.2:n.*508C>G
ENST00000579204.1:c.697C>G	ENSP00000464629.1:n.697C>G
ENST00000579314.5:c.*167C>G	ENSP00000462599.1:n.*167C>G
ENST00000582005.5:c.*358C>G	ENSP00000462002.1:n.*358C>G
ENST00000582761.1:c.206C>G	ENSP00000462909.1:p.Ala69Gly
ENST00000584865.5:n.384C>G
NM_000789.3:c.2438C>G	NP_000780.1:p.Ala813Gly
NM_001178057.1:c.716C>G	NP_001171528.1:p.Ala239Gly
NM_152830.2:c.716C>G	NP_690043.1:p.Ala239Gly
XM_005257110.1:c.1889C>G	XP_005257167.1:p.Ala630Gly
XM_006721737.2:c.776C>G	XP_006721800.2:p.Ala259Gly
XM_006721737.3:c.776C>G	XP_006721800.2:p.Ala259Gly
NM_000789.4:c.2438C>G MANE Select	NP_000780.1:p.Ala813Gly
NM_001178057.2:c.716C>G	NP_001171528.1:p.Ala239Gly
NM_152830.3:c.716C>G	NP_690043.1:p.Ala239Gly
NM_001382700.1:c.1871C>G	NP_001369629.1:p.Ala624Gly
NM_001382701.1:c.1586C>G	NP_001369630.1:p.Ala529Gly
NM_001382702.1:c.368C>G	NP_001369631.1:p.Ala123Gly
NR_168483.1:n.816C>G