Canonical Allele Identifier: CA400558043

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566129T>G (hg19) ; chr17:g.63488768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488768T>G , CM000679.2:g.63488768T>G	GRCh38
NC_000017.10:g.61566129T>G , CM000679.1:g.61566129T>G	GRCh37
NC_000017.9:g.58919861T>G	NCBI36
NG_011648.1:g.16696T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2426T>G MANE Select	ENSP00000290866.4:p.Ile809Ser
ENST00000290863.10:c.704T>G	ENSP00000290863.6:p.Ile235Ser
ENST00000290866.9:c.2426T>G	ENSP00000290866.4:p.Ile809Ser
ENST00000413513.7:c.704T>G	ENSP00000392247.3:p.Ile235Ser
ENST00000428043.5:c.2426T>G	ENSP00000397593.2:p.Ile809Ser
ENST00000577647.2:c.704T>G	ENSP00000464149.1:p.Ile235Ser
ENST00000578839.5:c.*496T>G	ENSP00000462110.2:n.*496T>G
ENST00000579204.1:c.685T>G	ENSP00000464629.1:n.685T>G
ENST00000579314.5:c.*155T>G	ENSP00000462599.1:n.*155T>G
ENST00000582005.5:c.*346T>G	ENSP00000462002.1:n.*346T>G
ENST00000582761.1:c.194T>G	ENSP00000462909.1:p.Ile65Ser
ENST00000584865.5:n.372T>G
NM_000789.3:c.2426T>G	NP_000780.1:p.Ile809Ser
NM_001178057.1:c.704T>G	NP_001171528.1:p.Ile235Ser
NM_152830.2:c.704T>G	NP_690043.1:p.Ile235Ser
XM_005257110.1:c.1877T>G	XP_005257167.1:p.Ile626Ser
XM_006721737.2:c.764T>G	XP_006721800.2:p.Ile255Ser
XM_006721737.3:c.764T>G	XP_006721800.2:p.Ile255Ser
NM_000789.4:c.2426T>G MANE Select	NP_000780.1:p.Ile809Ser
NM_001178057.2:c.704T>G	NP_001171528.1:p.Ile235Ser
NM_152830.3:c.704T>G	NP_690043.1:p.Ile235Ser
NM_001382700.1:c.1859T>G	NP_001369629.1:p.Ile620Ser
NM_001382701.1:c.1574T>G	NP_001369630.1:p.Ile525Ser
NM_001382702.1:c.356T>G	NP_001369631.1:p.Ile119Ser
NR_168483.1:n.804T>G