Canonical Allele Identifier: CA501187293

Gene: ACE

Linked Data

• gnomAD v4: 17-63488748-C-T
• MyVariant Identifiers: chr17:g.61566109C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488748C>T , CM000679.2:g.63488748C>T	GRCh38
NC_000017.10:g.61566109C>T , CM000679.1:g.61566109C>T	GRCh37
NC_000017.9:g.58919841C>T	NCBI36
NG_011648.1:g.16676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2406C>T MANE Select	ENSP00000290866.4:p.Tyr802=
ENST00000290863.10:c.684C>T	ENSP00000290863.6:p.Tyr228=
ENST00000290866.9:c.2406C>T	ENSP00000290866.4:p.Tyr802=
ENST00000413513.7:c.684C>T	ENSP00000392247.3:p.Tyr228=
ENST00000428043.5:c.2406C>T	ENSP00000397593.2:p.Tyr802=
ENST00000577647.2:c.684C>T	ENSP00000464149.1:p.Tyr228=
ENST00000578839.5:c.*476C>T	ENSP00000462110.2:n.*476C>T
ENST00000579204.1:c.665C>T	ENSP00000464629.1:n.665C>T
ENST00000579314.5:c.*135C>T	ENSP00000462599.1:n.*135C>T
ENST00000582005.5:c.*326C>T	ENSP00000462002.1:n.*326C>T
ENST00000582761.1:c.174C>T	ENSP00000462909.1:p.Tyr58=
ENST00000584865.5:n.352C>T
NM_000789.3:c.2406C>T	NP_000780.1:p.Tyr802=
NM_001178057.1:c.684C>T	NP_001171528.1:p.Tyr228=
NM_152830.2:c.684C>T	NP_690043.1:p.Tyr228=
XM_005257110.1:c.1857C>T	XP_005257167.1:p.Tyr619=
XM_006721737.2:c.744C>T	XP_006721800.2:p.Tyr248=
XM_006721737.3:c.744C>T	XP_006721800.2:p.Tyr248=
NM_000789.4:c.2406C>T MANE Select	NP_000780.1:p.Tyr802=
NM_001178057.2:c.684C>T	NP_001171528.1:p.Tyr228=
NM_152830.3:c.684C>T	NP_690043.1:p.Tyr228=
NM_001382700.1:c.1839C>T	NP_001369629.1:p.Tyr613=
NM_001382701.1:c.1554C>T	NP_001369630.1:p.Tyr518=
NM_001382702.1:c.336C>T	NP_001369631.1:p.Tyr112=
NR_168483.1:n.784C>T