Canonical Allele Identifier: CA985406585

Gene: ACE

Linked Data

• dbSNP Id: rs2049694008
• gnomAD v3: 17-63480784-C-T
• gnomAD v4: 17-63480784-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480784C>T , CM000679.2:g.63480784C>T	GRCh38
NC_000017.10:g.61558145C>T , CM000679.1:g.61558145C>T	GRCh37
NC_000017.9:g.58911877C>T	NCBI36
NG_011648.1:g.8712C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.847+256C>T MANE Select	ENSP00000290866.4:n.847+256C>T
ENST00000290866.9:c.847+256C>T	ENSP00000290866.4:n.847+256C>T
ENST00000428043.5:c.847+256C>T	ENSP00000397593.2:n.847+256C>T
ENST00000582627.1:c.847+256C>T	ENSP00000462280.1:n.847+256C>T
ENST00000582678.5:c.*246+256C>T	ENSP00000462995.1:n.*246+256C>T
ENST00000584529.5:n.881+256C>T
NM_000789.3:c.847+256C>T	NP_000780.1:n.847+256C>T
XM_005257110.1:c.298+256C>T	XP_005257167.1:n.298+256C>T
NM_000789.4:c.847+256C>T MANE Select	NP_000780.1:n.847+256C>T
NM_001382700.1:c.374+256C>T	NP_001369629.1:n.374+256C>T
NM_001382701.1:c.-6+256C>T	NP_001369630.1:n.-6+256C>T