Canonical Allele Identifier: CA400558221

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566350C>G (hg19) ; chr17:g.63488989C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488989C>G , CM000679.2:g.63488989C>G	GRCh38
NC_000017.10:g.61566350C>G , CM000679.1:g.61566350C>G	GRCh37
NC_000017.9:g.58920082C>G	NCBI36
NG_011648.1:g.16917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2498C>G MANE Select	ENSP00000290866.4:p.Ser833Cys
ENST00000290863.10:c.776C>G	ENSP00000290863.6:p.Ser259Cys
ENST00000290866.9:c.2498C>G	ENSP00000290866.4:p.Ser833Cys
ENST00000413513.7:c.776C>G	ENSP00000392247.3:p.Ser259Cys
ENST00000428043.5:c.2498C>G	ENSP00000397593.2:p.Ser833Cys
ENST00000577647.2:c.776C>G	ENSP00000464149.1:p.Ser259Cys
ENST00000578839.5:c.*519+198C>G	ENSP00000462110.2:n.*519+198C>G
ENST00000579204.1:c.757C>G	ENSP00000464629.1:n.757C>G
ENST00000579314.5:c.*227C>G	ENSP00000462599.1:n.*227C>G
ENST00000582005.5:c.*418C>G	ENSP00000462002.1:n.*418C>G
ENST00000582761.1:c.266C>G	ENSP00000462909.1:p.Ser89Cys
ENST00000584865.5:n.444C>G
NM_000789.3:c.2498C>G	NP_000780.1:p.Ser833Cys
NM_001178057.1:c.776C>G	NP_001171528.1:p.Ser259Cys
NM_152830.2:c.776C>G	NP_690043.1:p.Ser259Cys
XM_005257110.1:c.1949C>G	XP_005257167.1:p.Ser650Cys
XM_006721737.2:c.836C>G	XP_006721800.2:p.Ser279Cys
XM_006721737.3:c.836C>G	XP_006721800.2:p.Ser279Cys
NM_000789.4:c.2498C>G MANE Select	NP_000780.1:p.Ser833Cys
NM_001178057.2:c.776C>G	NP_001171528.1:p.Ser259Cys
NM_152830.3:c.776C>G	NP_690043.1:p.Ser259Cys
NM_001382700.1:c.1931C>G	NP_001369629.1:p.Ser644Cys
NM_001382701.1:c.1646C>G	NP_001369630.1:p.Ser549Cys
NM_001382702.1:c.379+198C>G	NP_001369631.1:n.379+198C>G
NR_168483.1:n.876C>G