Canonical Allele Identifier: CA8698956
Gene: ACE HGNC NCBI

Linked Data

ClinVar Variation Id: 324361
ClinVar RCV Id: RCV000344593 RCV002056614 RCV002504096
dbSNP Id: rs147912715
ExAC: 17:61554632 G / A
gnomAD v2: 17-61554632-G-A
gnomAD v3: 17-63477271-G-A
gnomAD v4: 17-63477271-G-A
MyVariant Identifiers: chr17:g.61554632G>A (hg19) chr17:g.63477271G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63477271G>A , CM000679.2:g.63477271G>A GRCh38
NC_000017.10:g.61554632G>A , CM000679.1:g.61554632G>A GRCh37
NC_000017.9:g.58908364G>A NCBI36
NG_011648.1:g.5199G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290866.10:c.177G>A MANE Select ENSP00000290866.4:p.Gln59=
ENST00000290866.9:c.177G>A ENSP00000290866.4:p.Gln59=
ENST00000428043.5:c.177G>A ENSP00000397593.2:p.Gln59=
ENST00000579462.1:n.202G>A
ENST00000582678.5:c.177G>A ENSP00000462995.1:p.Gln59=
ENST00000583336.5:n.211G>A
ENST00000584529.5:n.211G>A
NM_000789.3:c.177G>A NP_000780.1:p.Gln59=
XM_005257110.1:c.-279G>A XP_005257167.1:n.-279G>A
NM_000789.4:c.177G>A MANE Select NP_000780.1:p.Gln59=
NM_001382700.1:c.-59G>A NP_001369629.1:n.-59G>A
NM_001382701.1:c.-438G>A NP_001369630.1:n.-438G>A
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