Canonical Allele Identifier: CA400568787

Gene: ACE

Linked Data

• gnomAD v4: 17-63497220-C-A
• MyVariant Identifiers: chr17:g.61574581C>A (hg19) ; chr17:g.63497220C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497220C>A , CM000679.2:g.63497220C>A	GRCh38
NC_000017.10:g.61574581C>A , CM000679.1:g.61574581C>A	GRCh37
NC_000017.9:g.58928313C>A	NCBI36
NG_011648.1:g.25148C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3775C>A MANE Select	ENSP00000290866.4:p.Gln1259Lys
ENST00000290863.10:c.2053C>A	ENSP00000290863.6:p.Gln685Lys
ENST00000290866.9:c.3775C>A	ENSP00000290866.4:p.Gln1259Lys
ENST00000413513.7:c.1930C>A	ENSP00000392247.3:p.Gln644Lys
ENST00000428043.5:c.*197C>A	ENSP00000397593.2:n.*197C>A
ENST00000577647.2:c.1969+235C>A	ENSP00000464149.1:n.1969+235C>A
ENST00000578839.5:c.*1530C>A	ENSP00000462110.2:n.*1530C>A
ENST00000579314.5:c.*1504C>A	ENSP00000462599.1:n.*1504C>A
NM_000789.3:c.3775C>A	NP_000780.1:p.Gln1259Lys
NM_001178057.1:c.1930C>A	NP_001171528.1:p.Gln644Lys
NM_152830.2:c.2053C>A	NP_690043.1:p.Gln685Lys
XM_005257110.1:c.3226C>A	XP_005257167.1:p.Gln1076Lys
XM_006721737.2:c.2113C>A	XP_006721800.2:p.Gln705Lys
XM_006721737.3:c.2113C>A	XP_006721800.2:p.Gln705Lys
NM_000789.4:c.3775C>A MANE Select	NP_000780.1:p.Gln1259Lys
NM_001178057.2:c.1930C>A	NP_001171528.1:p.Gln644Lys
NM_152830.3:c.2053C>A	NP_690043.1:p.Gln685Lys
NM_001382700.1:c.3208C>A	NP_001369629.1:p.Gln1070Lys
NM_001382701.1:c.2923C>A	NP_001369630.1:p.Gln975Lys
NM_001382702.1:c.1390C>A	NP_001369631.1:p.Gln464Lys
NR_168483.1:n.2153C>A