Canonical Allele Identifier: CA292870747

Gene: ACE

Linked Data

• dbSNP Id: rs149083340
• gnomAD v2: 17-61554988-G-A
• gnomAD v3: 17-63477627-G-A
• gnomAD v4: 17-63477627-G-A
• MyVariant Identifiers: chr17:g.61554988G>A (hg19) ; chr17:g.63477627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477627G>A , CM000679.2:g.63477627G>A	GRCh38
NC_000017.10:g.61554988G>A , CM000679.1:g.61554988G>A	GRCh37
NC_000017.9:g.58908720G>A	NCBI36
NG_011648.1:g.5555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+284G>A MANE Select	ENSP00000290866.4:n.249+284G>A
ENST00000290866.9:c.249+284G>A	ENSP00000290866.4:n.249+284G>A
ENST00000428043.5:c.249+284G>A	ENSP00000397593.2:n.249+284G>A
ENST00000579462.1:n.274+284G>A
ENST00000580318.1:n.135G>A
ENST00000582627.1:c.86G>A	ENSP00000462280.1:p.Ser29Asn
ENST00000582678.5:c.249+284G>A	ENSP00000462995.1:n.249+284G>A
ENST00000583336.5:n.283+284G>A
ENST00000584529.5:n.283+284G>A
NM_000789.3:c.249+284G>A	NP_000780.1:n.249+284G>A
XM_005257110.1:c.-207+284G>A	XP_005257167.1:n.-207+284G>A
NM_000789.4:c.249+284G>A MANE Select	NP_000780.1:n.249+284G>A
NM_001382700.1:c.14+284G>A	NP_001369629.1:n.14+284G>A
NM_001382701.1:c.-366+284G>A	NP_001369630.1:n.-366+284G>A