Canonical Allele Identifier: CA400540778

Gene: ACE

Linked Data

• dbSNP Id: rs747960753
• gnomAD v2: 17-61555388-C-G
• gnomAD v4: 17-63478027-C-G
• MyVariant Identifiers: chr17:g.61555388C>G (hg19) ; chr17:g.63478027C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478027C>G , CM000679.2:g.63478027C>G	GRCh38
NC_000017.10:g.61555388C>G , CM000679.1:g.61555388C>G	GRCh37
NC_000017.9:g.58909120C>G	NCBI36
NG_011648.1:g.5955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.346C>G MANE Select	ENSP00000290866.4:p.Gln116Glu
ENST00000290866.9:c.346C>G	ENSP00000290866.4:p.Gln116Glu
ENST00000428043.5:c.346C>G	ENSP00000397593.2:p.Gln116Glu
ENST00000579462.1:n.371C>G
ENST00000580318.1:n.535C>G
ENST00000582627.1:c.346C>G	ENSP00000462280.1:p.Gln116Glu
ENST00000582678.5:c.346C>G	ENSP00000462995.1:p.Gln116Glu
ENST00000583336.5:n.380C>G
ENST00000584529.5:n.380C>G
NM_000789.3:c.346C>G	NP_000780.1:p.Gln116Glu
XM_005257110.1:c.-110C>G	XP_005257167.1:n.-110C>G
NM_000789.4:c.346C>G MANE Select	NP_000780.1:p.Gln116Glu
NM_001382700.1:c.111C>G	NP_001369629.1:p.Arg37=
NM_001382701.1:c.-269C>G	NP_001369630.1:n.-269C>G