Canonical Allele Identifier: CA400566844

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574207G>T (hg19) ; chr17:g.63496846G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496846G>T , CM000679.2:g.63496846G>T	GRCh38
NC_000017.10:g.61574207G>T , CM000679.1:g.61574207G>T	GRCh37
NC_000017.9:g.58927939G>T	NCBI36
NG_011648.1:g.24774G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3552G>T MANE Select	ENSP00000290866.4:p.Gln1184His
ENST00000290863.10:c.1830G>T	ENSP00000290863.6:p.Gln610His
ENST00000290866.9:c.3552G>T	ENSP00000290866.4:p.Gln1184His
ENST00000413513.7:c.1707G>T	ENSP00000392247.3:p.Gln569His
ENST00000428043.5:c.3552G>T	ENSP00000397593.2:p.Gln1184His
ENST00000577418.5:n.562G>T
ENST00000577647.2:c.1830G>T	ENSP00000464149.1:p.Gln610His
ENST00000578839.5:c.*1307G>T	ENSP00000462110.2:n.*1307G>T
ENST00000579314.5:c.*1281G>T	ENSP00000462599.1:n.*1281G>T
ENST00000579409.1:c.239G>T
ENST00000582244.1:n.426G>T
NM_000789.3:c.3552G>T	NP_000780.1:p.Gln1184His
NM_001178057.1:c.1707G>T	NP_001171528.1:p.Gln569His
NM_152830.2:c.1830G>T	NP_690043.1:p.Gln610His
XM_005257110.1:c.3003G>T	XP_005257167.1:p.Gln1001His
XM_006721737.2:c.1890G>T	XP_006721800.2:p.Gln630His
XM_006721737.3:c.1890G>T	XP_006721800.2:p.Gln630His
NM_000789.4:c.3552G>T MANE Select	NP_000780.1:p.Gln1184His
NM_001178057.2:c.1707G>T	NP_001171528.1:p.Gln569His
NM_152830.3:c.1830G>T	NP_690043.1:p.Gln610His
NM_001382700.1:c.2985G>T	NP_001369629.1:p.Gln995His
NM_001382701.1:c.2700G>T	NP_001369630.1:p.Gln900His
NM_001382702.1:c.1167G>T	NP_001369631.1:p.Gln389His
NR_168483.1:n.1930G>T