Canonical Allele Identifier: CA400539259

Gene: ACE

Linked Data

• dbSNP Id: rs2049638621
• gnomAD v4: 17-63477548-G-A
• MyVariant Identifiers: chr17:g.61554909G>A (hg19) ; chr17:g.63477548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477548G>A , CM000679.2:g.63477548G>A	GRCh38
NC_000017.10:g.61554909G>A , CM000679.1:g.61554909G>A	GRCh37
NC_000017.9:g.58908641G>A	NCBI36
NG_011648.1:g.5476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+205G>A MANE Select	ENSP00000290866.4:n.249+205G>A
ENST00000290866.9:c.249+205G>A	ENSP00000290866.4:n.249+205G>A
ENST00000428043.5:c.249+205G>A	ENSP00000397593.2:n.249+205G>A
ENST00000579462.1:n.274+205G>A
ENST00000580318.1:n.56G>A
ENST00000582627.1:c.7G>A	ENSP00000462280.1:p.Glu3Lys
ENST00000582678.5:c.249+205G>A	ENSP00000462995.1:n.249+205G>A
ENST00000583336.5:n.283+205G>A
ENST00000584529.5:n.283+205G>A
NM_000789.3:c.249+205G>A	NP_000780.1:n.249+205G>A
XM_005257110.1:c.-207+205G>A	XP_005257167.1:n.-207+205G>A
NM_000789.4:c.249+205G>A MANE Select	NP_000780.1:n.249+205G>A
NM_001382700.1:c.14+205G>A	NP_001369629.1:n.14+205G>A
NM_001382701.1:c.-366+205G>A	NP_001369630.1:n.-366+205G>A