Canonical Allele Identifier: CA400557898

Gene: ACE

Linked Data

• gnomAD v4: 17-63488701-T-C
• MyVariant Identifiers: chr17:g.61566062T>C (hg19) ; chr17:g.63488701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488701T>C , CM000679.2:g.63488701T>C	GRCh38
NC_000017.10:g.61566062T>C , CM000679.1:g.61566062T>C	GRCh37
NC_000017.9:g.58919794T>C	NCBI36
NG_011648.1:g.16629T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2359T>C MANE Select	ENSP00000290866.4:p.Trp787Arg
ENST00000290863.10:c.637T>C	ENSP00000290863.6:p.Trp213Arg
ENST00000290866.9:c.2359T>C	ENSP00000290866.4:p.Trp787Arg
ENST00000413513.7:c.637T>C	ENSP00000392247.3:p.Trp213Arg
ENST00000428043.5:c.2359T>C	ENSP00000397593.2:p.Trp787Arg
ENST00000577647.2:c.637T>C	ENSP00000464149.1:p.Trp213Arg
ENST00000578839.5:c.*429T>C	ENSP00000462110.2:n.*429T>C
ENST00000579204.1:c.618T>C	ENSP00000464629.1:n.618T>C
ENST00000579314.5:c.*88T>C	ENSP00000462599.1:n.*88T>C
ENST00000582005.5:c.*279T>C	ENSP00000462002.1:n.*279T>C
ENST00000582761.1:c.127T>C	ENSP00000462909.1:p.Trp43Arg
ENST00000584865.5:n.305T>C
NM_000789.3:c.2359T>C	NP_000780.1:p.Trp787Arg
NM_001178057.1:c.637T>C	NP_001171528.1:p.Trp213Arg
NM_152830.2:c.637T>C	NP_690043.1:p.Trp213Arg
XM_005257110.1:c.1810T>C	XP_005257167.1:p.Trp604Arg
XM_006721737.2:c.697T>C	XP_006721800.2:p.Trp233Arg
XM_006721737.3:c.697T>C	XP_006721800.2:p.Trp233Arg
NM_000789.4:c.2359T>C MANE Select	NP_000780.1:p.Trp787Arg
NM_001178057.2:c.637T>C	NP_001171528.1:p.Trp213Arg
NM_152830.3:c.637T>C	NP_690043.1:p.Trp213Arg
NM_001382700.1:c.1792T>C	NP_001369629.1:p.Trp598Arg
NM_001382701.1:c.1507T>C	NP_001369630.1:p.Trp503Arg
NM_001382702.1:c.289T>C	NP_001369631.1:p.Trp97Arg
NR_168483.1:n.737T>C