Canonical Allele Identifier: CA400568722

Gene: ACE

Linked Data

• gnomAD v4: 17-63497209-C-T
• MyVariant Identifiers: chr17:g.61574570C>T (hg19) ; chr17:g.63497209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497209C>T , CM000679.2:g.63497209C>T	GRCh38
NC_000017.10:g.61574570C>T , CM000679.1:g.61574570C>T	GRCh37
NC_000017.9:g.58928302C>T	NCBI36
NG_011648.1:g.25137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3764C>T MANE Select	ENSP00000290866.4:p.Ala1255Val
ENST00000290863.10:c.2042C>T	ENSP00000290863.6:p.Ala681Val
ENST00000290866.9:c.3764C>T	ENSP00000290866.4:p.Ala1255Val
ENST00000413513.7:c.1919C>T	ENSP00000392247.3:p.Ala640Val
ENST00000428043.5:c.*186C>T	ENSP00000397593.2:n.*186C>T
ENST00000577647.2:c.1969+224C>T	ENSP00000464149.1:n.1969+224C>T
ENST00000578839.5:c.*1519C>T	ENSP00000462110.2:n.*1519C>T
ENST00000579314.5:c.*1493C>T	ENSP00000462599.1:n.*1493C>T
NM_000789.3:c.3764C>T	NP_000780.1:p.Ala1255Val
NM_001178057.1:c.1919C>T	NP_001171528.1:p.Ala640Val
NM_152830.2:c.2042C>T	NP_690043.1:p.Ala681Val
XM_005257110.1:c.3215C>T	XP_005257167.1:p.Ala1072Val
XM_006721737.2:c.2102C>T	XP_006721800.2:p.Ala701Val
XM_006721737.3:c.2102C>T	XP_006721800.2:p.Ala701Val
NM_000789.4:c.3764C>T MANE Select	NP_000780.1:p.Ala1255Val
NM_001178057.2:c.1919C>T	NP_001171528.1:p.Ala640Val
NM_152830.3:c.2042C>T	NP_690043.1:p.Ala681Val
NM_001382700.1:c.3197C>T	NP_001369629.1:p.Ala1066Val
NM_001382701.1:c.2912C>T	NP_001369630.1:p.Ala971Val
NM_001382702.1:c.1379C>T	NP_001369631.1:p.Ala460Val
NR_168483.1:n.2142C>T