Canonical Allele Identifier: CA627148175

Gene: ACE

Linked Data

• dbSNP Id: rs1393741260
• gnomAD v2: 17-61565939-T-G
• MyVariant Identifiers: chr17:g.61565939T>G (hg19) ; chr17:g.63488578T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488578T>G , CM000679.2:g.63488578T>G	GRCh38
NC_000017.10:g.61565939T>G , CM000679.1:g.61565939T>G	GRCh37
NC_000017.9:g.58919671T>G	NCBI36
NG_011648.1:g.16506T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-70T>G MANE Select	ENSP00000290866.4:n.2306-70T>G
ENST00000290863.10:c.584-70T>G	ENSP00000290863.6:n.584-70T>G
ENST00000290866.9:c.2306-70T>G	ENSP00000290866.4:n.2306-70T>G
ENST00000413513.7:c.584-70T>G	ENSP00000392247.3:n.584-70T>G
ENST00000428043.5:c.2306-70T>G	ENSP00000397593.2:n.2306-70T>G
ENST00000577647.2:c.584-70T>G	ENSP00000464149.1:n.584-70T>G
ENST00000578839.5:c.*376-70T>G	ENSP00000462110.2:n.*376-70T>G
ENST00000579204.1:c.495T>G	ENSP00000464629.1:n.495T>G
ENST00000579314.5:c.592T>G	ENSP00000462599.1:p.Phe198Val
ENST00000582005.5:c.*226-70T>G	ENSP00000462002.1:n.*226-70T>G
ENST00000582761.1:c.74-70T>G	ENSP00000462909.1:n.74-70T>G
ENST00000584865.5:n.252-70T>G
NM_000789.3:c.2306-70T>G	NP_000780.1:n.2306-70T>G
NM_001178057.1:c.584-70T>G	NP_001171528.1:n.584-70T>G
NM_152830.2:c.584-70T>G	NP_690043.1:n.584-70T>G
XM_005257110.1:c.1757-70T>G	XP_005257167.1:n.1757-70T>G
XM_006721737.2:c.644-70T>G	XP_006721800.2:n.644-70T>G
XM_006721737.3:c.644-70T>G	XP_006721800.2:n.644-70T>G
NM_000789.4:c.2306-70T>G MANE Select	NP_000780.1:n.2306-70T>G
NM_001178057.2:c.584-70T>G	NP_001171528.1:n.584-70T>G
NM_152830.3:c.584-70T>G	NP_690043.1:n.584-70T>G
NM_001382700.1:c.1739-70T>G	NP_001369629.1:n.1739-70T>G
NM_001382701.1:c.1454-70T>G	NP_001369630.1:n.1454-70T>G
NM_001382702.1:c.236-70T>G	NP_001369631.1:n.236-70T>G
NR_168483.1:n.614T>G