Canonical Allele Identifier: CA400555984

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563990C>T (hg19) ; chr17:g.63486629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486629C>T , CM000679.2:g.63486629C>T	GRCh38
NC_000017.10:g.61563990C>T , CM000679.1:g.61563990C>T	GRCh37
NC_000017.9:g.58917722C>T	NCBI36
NG_011648.1:g.14557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2131C>T MANE Select	ENSP00000290866.4:p.Gln711Ter
ENST00000290863.10:c.409C>T	ENSP00000290863.6:p.Gln137Ter
ENST00000290866.9:c.2131C>T	ENSP00000290866.4:p.Gln711Ter
ENST00000413513.7:c.409C>T	ENSP00000392247.3:p.Gln137Ter
ENST00000428043.5:c.2131C>T	ENSP00000397593.2:p.Gln711Ter
ENST00000577647.2:c.409C>T	ENSP00000464149.1:p.Gln137Ter
ENST00000578839.5:c.*201C>T	ENSP00000462110.2:n.*201C>T
ENST00000579204.1:c.312C>T	ENSP00000464629.1:n.312C>T
ENST00000579314.5:c.409C>T	ENSP00000462599.1:p.Gln137Ter
ENST00000579726.5:c.693C>T
ENST00000582005.5:c.*51C>T	ENSP00000462002.1:n.*51C>T
NM_000789.3:c.2131C>T	NP_000780.1:p.Gln711Ter
NM_001178057.1:c.409C>T	NP_001171528.1:p.Gln137Ter
NM_152830.2:c.409C>T	NP_690043.1:p.Gln137Ter
XM_005257110.1:c.1582C>T	XP_005257167.1:p.Gln528Ter
XM_006721737.2:c.469C>T	XP_006721800.2:p.Gln157Ter
XM_006721737.3:c.469C>T	XP_006721800.2:p.Gln157Ter
NM_000789.4:c.2131C>T MANE Select	NP_000780.1:p.Gln711Ter
NM_001178057.2:c.409C>T	NP_001171528.1:p.Gln137Ter
NM_152830.3:c.409C>T	NP_690043.1:p.Gln137Ter
NM_001382700.1:c.1564C>T	NP_001369629.1:p.Gln522Ter
NM_001382701.1:c.1279C>T	NP_001369630.1:p.Gln427Ter
NM_001382702.1:c.61C>T	NP_001369631.1:p.Gln21Ter
NR_168483.1:n.431C>T