Canonical Allele Identifier: CA8699036

Gene: ACE

Linked Data

• ClinVar Variation Id: 324363
• ClinVar RCV Id: RCV000304810 ; RCV002521117
• dbSNP Id: rs3729659
• ExAC: 17:61555453 G / T
• gnomAD v2: 17-61555453-G-T
• gnomAD v3: 17-63478092-G-T
• gnomAD v4: 17-63478092-G-T
• MyVariant Identifiers: chr17:g.61555453G>T (hg19) ; chr17:g.63478092G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478092G>T , CM000679.2:g.63478092G>T	GRCh38
NC_000017.10:g.61555453G>T , CM000679.1:g.61555453G>T	GRCh37
NC_000017.9:g.58909185G>T	NCBI36
NG_011648.1:g.6020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.411G>T MANE Select	ENSP00000290866.4:p.Arg137=
ENST00000290866.9:c.411G>T	ENSP00000290866.4:p.Arg137=
ENST00000428043.5:c.411G>T	ENSP00000397593.2:p.Arg137=
ENST00000579462.1:n.436G>T
ENST00000580318.1:n.600G>T
ENST00000582627.1:c.411G>T	ENSP00000462280.1:p.Arg137=
ENST00000582678.5:c.411G>T	ENSP00000462995.1:p.Arg137=
ENST00000583336.5:n.445G>T
ENST00000584529.5:n.445G>T
NM_000789.3:c.411G>T	NP_000780.1:p.Arg137=
XM_005257110.1:c.-45G>T	XP_005257167.1:n.-45G>T
NM_000789.4:c.411G>T MANE Select	NP_000780.1:p.Arg137=
NM_001382700.1:c.176G>T	NP_001369629.1:p.Gly59Val
NM_001382701.1:c.-204G>T	NP_001369630.1:n.-204G>T