Canonical Allele Identifier: CA985406608

Gene: ACE

Linked Data

• dbSNP Id: rs2049695479
• gnomAD v3: 17-63480849-T-G
• gnomAD v4: 17-63480849-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480849T>G , CM000679.2:g.63480849T>G	GRCh38
NC_000017.10:g.61558210T>G , CM000679.1:g.61558210T>G	GRCh37
NC_000017.9:g.58911942T>G	NCBI36
NG_011648.1:g.8777T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.848-242T>G MANE Select	ENSP00000290866.4:n.848-242T>G
ENST00000290866.9:c.848-242T>G	ENSP00000290866.4:n.848-242T>G
ENST00000428043.5:c.848-242T>G	ENSP00000397593.2:n.848-242T>G
ENST00000582627.1:c.848-242T>G	ENSP00000462280.1:n.848-242T>G
ENST00000582678.5:c.*247-242T>G	ENSP00000462995.1:n.*247-242T>G
ENST00000584529.5:n.882-242T>G
NM_000789.3:c.848-242T>G	NP_000780.1:n.848-242T>G
XM_005257110.1:c.299-242T>G	XP_005257167.1:n.299-242T>G
NM_000789.4:c.848-242T>G MANE Select	NP_000780.1:n.848-242T>G
NM_001382700.1:c.375-242T>G	NP_001369629.1:n.375-242T>G
NM_001382701.1:c.-5-242T>G	NP_001369630.1:n.-5-242T>G