Canonical Allele Identifier: CA8699961

Gene: ACE

Linked Data

• dbSNP Id: rs757100327
• ExAC: 17:61564069 T / A
• gnomAD v2: 17-61564069-T-A
• gnomAD v3: 17-63486708-T-A
• gnomAD v4: 17-63486708-T-A
• MyVariant Identifiers: chr17:g.61564069T>A (hg19) ; chr17:g.63486708T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486708T>A , CM000679.2:g.63486708T>A	GRCh38
NC_000017.10:g.61564069T>A , CM000679.1:g.61564069T>A	GRCh37
NC_000017.9:g.58917801T>A	NCBI36
NG_011648.1:g.14636T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2210T>A MANE Select	ENSP00000290866.4:p.Leu737Gln
ENST00000290863.10:c.488T>A	ENSP00000290863.6:p.Leu163Gln
ENST00000290866.9:c.2210T>A	ENSP00000290866.4:p.Leu737Gln
ENST00000413513.7:c.488T>A	ENSP00000392247.3:p.Leu163Gln
ENST00000428043.5:c.2210T>A	ENSP00000397593.2:p.Leu737Gln
ENST00000577647.2:c.488T>A	ENSP00000464149.1:p.Leu163Gln
ENST00000578839.5:c.*280T>A	ENSP00000462110.2:n.*280T>A
ENST00000579204.1:c.391T>A	ENSP00000464629.1:n.391T>A
ENST00000579314.5:c.488T>A	ENSP00000462599.1:p.Leu163Gln
ENST00000579726.5:c.772T>A
ENST00000582005.5:c.*130T>A	ENSP00000462002.1:n.*130T>A
NM_000789.3:c.2210T>A	NP_000780.1:p.Leu737Gln
NM_001178057.1:c.488T>A	NP_001171528.1:p.Leu163Gln
NM_152830.2:c.488T>A	NP_690043.1:p.Leu163Gln
XM_005257110.1:c.1661T>A	XP_005257167.1:p.Leu554Gln
XM_006721737.2:c.548T>A	XP_006721800.2:p.Leu183Gln
XM_006721737.3:c.548T>A	XP_006721800.2:p.Leu183Gln
NM_000789.4:c.2210T>A MANE Select	NP_000780.1:p.Leu737Gln
NM_001178057.2:c.488T>A	NP_001171528.1:p.Leu163Gln
NM_152830.3:c.488T>A	NP_690043.1:p.Leu163Gln
NM_001382700.1:c.1643T>A	NP_001369629.1:p.Leu548Gln
NM_001382701.1:c.1358T>A	NP_001369630.1:p.Leu453Gln
NM_001382702.1:c.140T>A	NP_001369631.1:p.Leu47Gln
NR_168483.1:n.510T>A