Canonical Allele Identifier: CA501341519

Gene: ACE

Linked Data

• dbSNP Id: rs1223106227
• gnomAD v4: 17-63478059-C-T
• MyVariant Identifiers: chr17:g.61555420C>T (hg19) ; chr17:g.63478059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478059C>T , CM000679.2:g.63478059C>T	GRCh38
NC_000017.10:g.61555420C>T , CM000679.1:g.61555420C>T	GRCh37
NC_000017.9:g.58909152C>T	NCBI36
NG_011648.1:g.5987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.378C>T MANE Select	ENSP00000290866.4:p.Thr126=
ENST00000290866.9:c.378C>T	ENSP00000290866.4:p.Thr126=
ENST00000428043.5:c.378C>T	ENSP00000397593.2:p.Thr126=
ENST00000579462.1:n.403C>T
ENST00000580318.1:n.567C>T
ENST00000582627.1:c.378C>T	ENSP00000462280.1:p.Thr126=
ENST00000582678.5:c.378C>T	ENSP00000462995.1:p.Thr126=
ENST00000583336.5:n.412C>T
ENST00000584529.5:n.412C>T
NM_000789.3:c.378C>T	NP_000780.1:p.Thr126=
XM_005257110.1:c.-78C>T	XP_005257167.1:n.-78C>T
NM_000789.4:c.378C>T MANE Select	NP_000780.1:p.Thr126=
NM_001382700.1:c.143C>T	NP_001369629.1:p.Pro48Leu
NM_001382701.1:c.-237C>T	NP_001369630.1:n.-237C>T