Canonical Allele Identifier: CA2639237476

Gene: ACE

Linked Data

• gnomAD v4: 17-63477706-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477706T>C , CM000679.2:g.63477706T>C	GRCh38
NC_000017.10:g.61555067T>C , CM000679.1:g.61555067T>C	GRCh37
NC_000017.9:g.58908799T>C	NCBI36
NG_011648.1:g.5634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.250-225T>C MANE Select	ENSP00000290866.4:n.250-225T>C
ENST00000290866.9:c.250-225T>C	ENSP00000290866.4:n.250-225T>C
ENST00000428043.5:c.250-225T>C	ENSP00000397593.2:n.250-225T>C
ENST00000579462.1:n.275-225T>C
ENST00000580318.1:n.214T>C
ENST00000582627.1:c.165T>C	ENSP00000462280.1:p.Pro55=
ENST00000582678.5:c.250-225T>C	ENSP00000462995.1:n.250-225T>C
ENST00000583336.5:n.284-225T>C
ENST00000584529.5:n.284-225T>C
NM_000789.3:c.250-225T>C	NP_000780.1:n.250-225T>C
XM_005257110.1:c.-206-225T>C	XP_005257167.1:n.-206-225T>C
NM_000789.4:c.250-225T>C MANE Select	NP_000780.1:n.250-225T>C
NM_001382700.1:c.15-225T>C	NP_001369629.1:n.15-225T>C
NM_001382701.1:c.-365-225T>C	NP_001369630.1:n.-365-225T>C