Canonical Allele Identifier: CA292871888

Gene: ACE

Linked Data

• dbSNP Id: rs1015502824
• gnomAD v2: 17-61555486-G-C
• gnomAD v3: 17-63478125-G-C
• gnomAD v4: 17-63478125-G-C
• MyVariant Identifiers: chr17:g.61555486G>C (hg19) ; chr17:g.63478125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478125G>C , CM000679.2:g.63478125G>C	GRCh38
NC_000017.10:g.61555486G>C , CM000679.1:g.61555486G>C	GRCh37
NC_000017.9:g.58909218G>C	NCBI36
NG_011648.1:g.6053G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.417+27G>C MANE Select	ENSP00000290866.4:n.417+27G>C
ENST00000290866.9:c.417+27G>C	ENSP00000290866.4:n.417+27G>C
ENST00000428043.5:c.417+27G>C	ENSP00000397593.2:n.417+27G>C
ENST00000579462.1:n.469G>C
ENST00000580318.1:n.606+27G>C
ENST00000582627.1:c.417+27G>C	ENSP00000462280.1:n.417+27G>C
ENST00000582678.5:c.417+27G>C	ENSP00000462995.1:n.417+27G>C
ENST00000583336.5:n.451+27G>C
ENST00000584529.5:n.451+27G>C
NM_000789.3:c.417+27G>C	NP_000780.1:n.417+27G>C
XM_005257110.1:c.-39+27G>C	XP_005257167.1:n.-39+27G>C
NM_000789.4:c.417+27G>C MANE Select	NP_000780.1:n.417+27G>C
NM_001382700.1:c.182+27G>C	NP_001369629.1:n.182+27G>C
NM_001382701.1:c.-198+27G>C	NP_001369630.1:n.-198+27G>C