Canonical Allele Identifier: CA2269941563

Gene: ACE

Linked Data

• dbSNP Id: rs2049690991
• gnomAD v4: 17-63480604-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480604G>A , CM000679.2:g.63480604G>A	GRCh38
NC_000017.10:g.61557965G>A , CM000679.1:g.61557965G>A	GRCh37
NC_000017.9:g.58911697G>A	NCBI36
NG_011648.1:g.8532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.847+76G>A MANE Select	ENSP00000290866.4:n.847+76G>A
ENST00000290866.9:c.847+76G>A	ENSP00000290866.4:n.847+76G>A
ENST00000428043.5:c.847+76G>A	ENSP00000397593.2:n.847+76G>A
ENST00000582627.1:c.847+76G>A	ENSP00000462280.1:n.847+76G>A
ENST00000582678.5:c.*246+76G>A	ENSP00000462995.1:n.*246+76G>A
ENST00000584529.5:n.881+76G>A
NM_000789.3:c.847+76G>A	NP_000780.1:n.847+76G>A
XM_005257110.1:c.298+76G>A	XP_005257167.1:n.298+76G>A
NM_000789.4:c.847+76G>A MANE Select	NP_000780.1:n.847+76G>A
NM_001382700.1:c.374+76G>A	NP_001369629.1:n.374+76G>A
NM_001382701.1:c.-6+76G>A	NP_001369630.1:n.-6+76G>A