Canonical Allele Identifier: CA8699030

Gene: ACE

Linked Data

• dbSNP Id: rs759033270
• ExAC: 17:61555415 C / T
• gnomAD v2: 17-61555415-C-T
• gnomAD v4: 17-63478054-C-T
• MyVariant Identifiers: chr17:g.61555415C>T (hg19) ; chr17:g.63478054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478054C>T , CM000679.2:g.63478054C>T	GRCh38
NC_000017.10:g.61555415C>T , CM000679.1:g.61555415C>T	GRCh37
NC_000017.9:g.58909147C>T	NCBI36
NG_011648.1:g.5982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.373C>T MANE Select	ENSP00000290866.4:p.Arg125Cys
ENST00000290866.9:c.373C>T	ENSP00000290866.4:p.Arg125Cys
ENST00000428043.5:c.373C>T	ENSP00000397593.2:p.Arg125Cys
ENST00000579462.1:n.398C>T
ENST00000580318.1:n.562C>T
ENST00000582627.1:c.373C>T	ENSP00000462280.1:p.Arg125Cys
ENST00000582678.5:c.373C>T	ENSP00000462995.1:p.Arg125Cys
ENST00000583336.5:n.407C>T
ENST00000584529.5:n.407C>T
NM_000789.3:c.373C>T	NP_000780.1:p.Arg125Cys
XM_005257110.1:c.-83C>T	XP_005257167.1:n.-83C>T
NM_000789.4:c.373C>T MANE Select	NP_000780.1:p.Arg125Cys
NM_001382700.1:c.138C>T	NP_001369629.1:p.Cys46=
NM_001382701.1:c.-242C>T	NP_001369630.1:n.-242C>T