Canonical Allele Identifier: CA400548764

Gene: ACE

Linked Data

• gnomAD v4: 17-63482473-C-T
• MyVariant Identifiers: chr17:g.61559834C>T (hg19) ; chr17:g.63482473C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482473C>T , CM000679.2:g.63482473C>T	GRCh38
NC_000017.10:g.61559834C>T , CM000679.1:g.61559834C>T	GRCh37
NC_000017.9:g.58913566C>T	NCBI36
NG_011648.1:g.10401C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1126C>T MANE Select	ENSP00000290866.4:p.Gln376Ter
ENST00000290866.9:c.1126C>T	ENSP00000290866.4:p.Gln376Ter
ENST00000428043.5:c.1126C>T	ENSP00000397593.2:p.Gln376Ter
ENST00000582678.5:c.*525C>T	ENSP00000462995.1:n.*525C>T
ENST00000584529.5:n.1160C>T
NM_000789.3:c.1126C>T	NP_000780.1:p.Gln376Ter
XM_005257110.1:c.577C>T	XP_005257167.1:p.Gln193Ter
NM_000789.4:c.1126C>T MANE Select	NP_000780.1:p.Gln376Ter
NM_001382700.1:c.559C>T	NP_001369629.1:p.Gln187Ter
NM_001382701.1:c.274C>T	NP_001369630.1:p.Gln92Ter