Canonical Allele Identifier: CA501342315

Gene: ACE

Linked Data

• gnomAD v4: 17-63497195-G-T
• MyVariant Identifiers: chr17:g.61574556G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497195G>T , CM000679.2:g.63497195G>T	GRCh38
NC_000017.10:g.61574556G>T , CM000679.1:g.61574556G>T	GRCh37
NC_000017.9:g.58928288G>T	NCBI36
NG_011648.1:g.25123G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3750G>T MANE Select	ENSP00000290866.4:p.Leu1250=
ENST00000290863.10:c.2028G>T	ENSP00000290863.6:p.Leu676=
ENST00000290866.9:c.3750G>T	ENSP00000290866.4:p.Leu1250=
ENST00000413513.7:c.1905G>T	ENSP00000392247.3:p.Leu635=
ENST00000428043.5:c.*172G>T	ENSP00000397593.2:n.*172G>T
ENST00000577647.2:c.1969+210G>T	ENSP00000464149.1:n.1969+210G>T
ENST00000578839.5:c.*1505G>T	ENSP00000462110.2:n.*1505G>T
ENST00000579314.5:c.*1479G>T	ENSP00000462599.1:n.*1479G>T
NM_000789.3:c.3750G>T	NP_000780.1:p.Leu1250=
NM_001178057.1:c.1905G>T	NP_001171528.1:p.Leu635=
NM_152830.2:c.2028G>T	NP_690043.1:p.Leu676=
XM_005257110.1:c.3201G>T	XP_005257167.1:p.Leu1067=
XM_006721737.2:c.2088G>T	XP_006721800.2:p.Leu696=
XM_006721737.3:c.2088G>T	XP_006721800.2:p.Leu696=
NM_000789.4:c.3750G>T MANE Select	NP_000780.1:p.Leu1250=
NM_001178057.2:c.1905G>T	NP_001171528.1:p.Leu635=
NM_152830.3:c.2028G>T	NP_690043.1:p.Leu676=
NM_001382700.1:c.3183G>T	NP_001369629.1:p.Leu1061=
NM_001382701.1:c.2898G>T	NP_001369630.1:p.Leu966=
NM_001382702.1:c.1365G>T	NP_001369631.1:p.Leu455=
NR_168483.1:n.2128G>T