Canonical Allele Identifier: CA400558481

Gene: ACE

Linked Data

• gnomAD v4: 17-63489036-T-C
• MyVariant Identifiers: chr17:g.61566397T>C (hg19) ; chr17:g.63489036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489036T>C , CM000679.2:g.63489036T>C	GRCh38
NC_000017.10:g.61566397T>C , CM000679.1:g.61566397T>C	GRCh37
NC_000017.9:g.58920129T>C	NCBI36
NG_011648.1:g.16964T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2545T>C MANE Select	ENSP00000290866.4:p.Tyr849His
ENST00000290863.10:c.823T>C	ENSP00000290863.6:p.Tyr275His
ENST00000290866.9:c.2545T>C	ENSP00000290866.4:p.Tyr849His
ENST00000413513.7:c.823T>C	ENSP00000392247.3:p.Tyr275His
ENST00000428043.5:c.2545T>C	ENSP00000397593.2:p.Tyr849His
ENST00000577647.2:c.823T>C	ENSP00000464149.1:p.Tyr275His
ENST00000578839.5:c.*519+245T>C	ENSP00000462110.2:n.*519+245T>C
ENST00000579204.1:c.804T>C	ENSP00000464629.1:n.804T>C
ENST00000579314.5:c.*274T>C	ENSP00000462599.1:n.*274T>C
ENST00000582005.5:c.*465T>C	ENSP00000462002.1:n.*465T>C
ENST00000582761.1:c.313T>C	ENSP00000462909.1:p.Tyr105His
ENST00000584865.5:n.491T>C
NM_000789.3:c.2545T>C	NP_000780.1:p.Tyr849His
NM_001178057.1:c.823T>C	NP_001171528.1:p.Tyr275His
NM_152830.2:c.823T>C	NP_690043.1:p.Tyr275His
XM_005257110.1:c.1996T>C	XP_005257167.1:p.Tyr666His
XM_006721737.2:c.883T>C	XP_006721800.2:p.Tyr295His
XM_006721737.3:c.883T>C	XP_006721800.2:p.Tyr295His
NM_000789.4:c.2545T>C MANE Select	NP_000780.1:p.Tyr849His
NM_001178057.2:c.823T>C	NP_001171528.1:p.Tyr275His
NM_152830.3:c.823T>C	NP_690043.1:p.Tyr275His
NM_001382700.1:c.1978T>C	NP_001369629.1:p.Tyr660His
NM_001382701.1:c.1693T>C	NP_001369630.1:p.Tyr565His
NM_001382702.1:c.379+245T>C	NP_001369631.1:n.379+245T>C
NR_168483.1:n.923T>C