Canonical Allele Identifier: CA400540727

Gene: ACE

Linked Data

• ClinVar Variation Id: 1523085
• ClinVar RCV Id: RCV002036499
• dbSNP Id: rs2147525555
• MyVariant Identifiers: chr17:g.61555367T>C (hg19) ; chr17:g.63478006T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478006T>C , CM000679.2:g.63478006T>C	GRCh38
NC_000017.10:g.61555367T>C , CM000679.1:g.61555367T>C	GRCh37
NC_000017.9:g.58909099T>C	NCBI36
NG_011648.1:g.5934T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.325T>C MANE Select	ENSP00000290866.4:p.Trp109Arg
ENST00000290866.9:c.325T>C	ENSP00000290866.4:p.Trp109Arg
ENST00000428043.5:c.325T>C	ENSP00000397593.2:p.Trp109Arg
ENST00000579462.1:n.350T>C
ENST00000580318.1:n.514T>C
ENST00000582627.1:c.325T>C	ENSP00000462280.1:p.Trp109Arg
ENST00000582678.5:c.325T>C	ENSP00000462995.1:p.Trp109Arg
ENST00000583336.5:n.359T>C
ENST00000584529.5:n.359T>C
NM_000789.3:c.325T>C	NP_000780.1:p.Trp109Arg
XM_005257110.1:c.-131T>C	XP_005257167.1:n.-131T>C
NM_000789.4:c.325T>C MANE Select	NP_000780.1:p.Trp109Arg
NM_001382700.1:c.90T>C	NP_001369629.1:p.Ser30=
NM_001382701.1:c.-290T>C	NP_001369630.1:n.-290T>C