Canonical Allele Identifier: CA985406620

Gene: ACE

Linked Data

• dbSNP Id: rs1275718191
• gnomAD v3: 17-63480898-C-G
• gnomAD v4: 17-63480898-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480898C>G , CM000679.2:g.63480898C>G	GRCh38
NC_000017.10:g.61558259C>G , CM000679.1:g.61558259C>G	GRCh37
NC_000017.9:g.58911991C>G	NCBI36
NG_011648.1:g.8826C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.848-193C>G MANE Select	ENSP00000290866.4:n.848-193C>G
ENST00000290866.9:c.848-193C>G	ENSP00000290866.4:n.848-193C>G
ENST00000428043.5:c.848-193C>G	ENSP00000397593.2:n.848-193C>G
ENST00000582627.1:c.848-193C>G	ENSP00000462280.1:n.848-193C>G
ENST00000582678.5:c.*247-193C>G	ENSP00000462995.1:n.*247-193C>G
ENST00000584529.5:n.882-193C>G
NM_000789.3:c.848-193C>G	NP_000780.1:n.848-193C>G
XM_005257110.1:c.299-193C>G	XP_005257167.1:n.299-193C>G
NM_000789.4:c.848-193C>G MANE Select	NP_000780.1:n.848-193C>G
NM_001382700.1:c.375-193C>G	NP_001369629.1:n.375-193C>G
NM_001382701.1:c.-5-193C>G	NP_001369630.1:n.-5-193C>G