Canonical Allele Identifier: CA400569225

Gene: ACE

Linked Data

• dbSNP Id: rs1268051765
• gnomAD v3: 17-63497292-A-T
• gnomAD v4: 17-63497292-A-T
• MyVariant Identifiers: chr17:g.61574653A>T (hg19) ; chr17:g.63497292A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497292A>T , CM000679.2:g.63497292A>T	GRCh38
NC_000017.10:g.61574653A>T , CM000679.1:g.61574653A>T	GRCh37
NC_000017.9:g.58928385A>T	NCBI36
NG_011648.1:g.25220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3847A>T MANE Select	ENSP00000290866.4:p.Ile1283Phe
ENST00000290863.10:c.2125A>T	ENSP00000290863.6:p.Ile709Phe
ENST00000290866.9:c.3847A>T	ENSP00000290866.4:p.Ile1283Phe
ENST00000413513.7:c.2002A>T	ENSP00000392247.3:p.Ile668Phe
ENST00000428043.5:c.*269A>T	ENSP00000397593.2:n.*269A>T
ENST00000577647.2:c.1969+307A>T	ENSP00000464149.1:n.1969+307A>T
ENST00000578839.5:c.*1602A>T	ENSP00000462110.2:n.*1602A>T
ENST00000579314.5:c.*1576A>T	ENSP00000462599.1:n.*1576A>T
NM_000789.3:c.3847A>T	NP_000780.1:p.Ile1283Phe
NM_001178057.1:c.2002A>T	NP_001171528.1:p.Ile668Phe
NM_152830.2:c.2125A>T	NP_690043.1:p.Ile709Phe
XM_005257110.1:c.3298A>T	XP_005257167.1:p.Ile1100Phe
XM_006721737.2:c.2185A>T	XP_006721800.2:p.Ile729Phe
XM_006721737.3:c.2185A>T	XP_006721800.2:p.Ile729Phe
NM_000789.4:c.3847A>T MANE Select	NP_000780.1:p.Ile1283Phe
NM_001178057.2:c.2002A>T	NP_001171528.1:p.Ile668Phe
NM_152830.3:c.2125A>T	NP_690043.1:p.Ile709Phe
NM_001382700.1:c.3280A>T	NP_001369629.1:p.Ile1094Phe
NM_001382701.1:c.2995A>T	NP_001369630.1:p.Ile999Phe
NM_001382702.1:c.1462A>T	NP_001369631.1:p.Ile488Phe
NR_168483.1:n.2225A>T