Canonical Allele Identifier: CA2639237401

Gene: ACE

Linked Data

• gnomAD v4: 17-63477547-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477547T>C , CM000679.2:g.63477547T>C	GRCh38
NC_000017.10:g.61554908T>C , CM000679.1:g.61554908T>C	GRCh37
NC_000017.9:g.58908640T>C	NCBI36
NG_011648.1:g.5475T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+204T>C MANE Select	ENSP00000290866.4:n.249+204T>C
ENST00000290866.9:c.249+204T>C	ENSP00000290866.4:n.249+204T>C
ENST00000428043.5:c.249+204T>C	ENSP00000397593.2:n.249+204T>C
ENST00000579462.1:n.274+204T>C
ENST00000580318.1:n.55T>C
ENST00000582627.1:c.6T>C	ENSP00000462280.1:p.Asp2=
ENST00000582678.5:c.249+204T>C	ENSP00000462995.1:n.249+204T>C
ENST00000583336.5:n.283+204T>C
ENST00000584529.5:n.283+204T>C
NM_000789.3:c.249+204T>C	NP_000780.1:n.249+204T>C
XM_005257110.1:c.-207+204T>C	XP_005257167.1:n.-207+204T>C
NM_000789.4:c.249+204T>C MANE Select	NP_000780.1:n.249+204T>C
NM_001382700.1:c.14+204T>C	NP_001369629.1:n.14+204T>C
NM_001382701.1:c.-366+204T>C	NP_001369630.1:n.-366+204T>C