Canonical Allele Identifier: CA501341604

Gene: ACE

Linked Data

• dbSNP Id: rs1190121193
• gnomAD v3: 17-63482475-G-A
• gnomAD v4: 17-63482475-G-A
• MyVariant Identifiers: chr17:g.61559836G>A (hg19) ; chr17:g.63482475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482475G>A , CM000679.2:g.63482475G>A	GRCh38
NC_000017.10:g.61559836G>A , CM000679.1:g.61559836G>A	GRCh37
NC_000017.9:g.58913568G>A	NCBI36
NG_011648.1:g.10403G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1128G>A MANE Select	ENSP00000290866.4:p.Gln376=
ENST00000290866.9:c.1128G>A	ENSP00000290866.4:p.Gln376=
ENST00000428043.5:c.1128G>A	ENSP00000397593.2:p.Gln376=
ENST00000582678.5:c.*527G>A	ENSP00000462995.1:n.*527G>A
ENST00000584529.5:n.1162G>A
NM_000789.3:c.1128G>A	NP_000780.1:p.Gln376=
XM_005257110.1:c.579G>A	XP_005257167.1:p.Gln193=
NM_000789.4:c.1128G>A MANE Select	NP_000780.1:p.Gln376=
NM_001382700.1:c.561G>A	NP_001369629.1:p.Gln187=
NM_001382701.1:c.276G>A	NP_001369630.1:p.Gln92=