Canonical Allele Identifier: CA501341644

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559872G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482511G>T , CM000679.2:g.63482511G>T	GRCh38
NC_000017.10:g.61559872G>T , CM000679.1:g.61559872G>T	GRCh37
NC_000017.9:g.58913604G>T	NCBI36
NG_011648.1:g.10439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1164G>T MANE Select	ENSP00000290866.4:p.Val388=
ENST00000290866.9:c.1164G>T	ENSP00000290866.4:p.Val388=
ENST00000428043.5:c.1164G>T	ENSP00000397593.2:p.Val388=
ENST00000582678.5:c.*563G>T	ENSP00000462995.1:n.*563G>T
ENST00000584529.5:n.1198G>T
NM_000789.3:c.1164G>T	NP_000780.1:p.Val388=
XM_005257110.1:c.615G>T	XP_005257167.1:p.Val205=
NM_000789.4:c.1164G>T MANE Select	NP_000780.1:p.Val388=
NM_001382700.1:c.597G>T	NP_001369629.1:p.Val199=
NM_001382701.1:c.312G>T	NP_001369630.1:p.Val104=