Canonical Allele Identifier: CA400557910

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566067G>C (hg19) ; chr17:g.63488706G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488706G>C , CM000679.2:g.63488706G>C	GRCh38
NC_000017.10:g.61566067G>C , CM000679.1:g.61566067G>C	GRCh37
NC_000017.9:g.58919799G>C	NCBI36
NG_011648.1:g.16634G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2364G>C MANE Select	ENSP00000290866.4:p.Glu788Asp
ENST00000290863.10:c.642G>C	ENSP00000290863.6:p.Glu214Asp
ENST00000290866.9:c.2364G>C	ENSP00000290866.4:p.Glu788Asp
ENST00000413513.7:c.642G>C	ENSP00000392247.3:p.Glu214Asp
ENST00000428043.5:c.2364G>C	ENSP00000397593.2:p.Glu788Asp
ENST00000577647.2:c.642G>C	ENSP00000464149.1:p.Glu214Asp
ENST00000578839.5:c.*434G>C	ENSP00000462110.2:n.*434G>C
ENST00000579204.1:c.623G>C	ENSP00000464629.1:n.623G>C
ENST00000579314.5:c.*93G>C	ENSP00000462599.1:n.*93G>C
ENST00000582005.5:c.*284G>C	ENSP00000462002.1:n.*284G>C
ENST00000582761.1:c.132G>C	ENSP00000462909.1:p.Glu44Asp
ENST00000584865.5:n.310G>C
NM_000789.3:c.2364G>C	NP_000780.1:p.Glu788Asp
NM_001178057.1:c.642G>C	NP_001171528.1:p.Glu214Asp
NM_152830.2:c.642G>C	NP_690043.1:p.Glu214Asp
XM_005257110.1:c.1815G>C	XP_005257167.1:p.Glu605Asp
XM_006721737.2:c.702G>C	XP_006721800.2:p.Glu234Asp
XM_006721737.3:c.702G>C	XP_006721800.2:p.Glu234Asp
NM_000789.4:c.2364G>C MANE Select	NP_000780.1:p.Glu788Asp
NM_001178057.2:c.642G>C	NP_001171528.1:p.Glu214Asp
NM_152830.3:c.642G>C	NP_690043.1:p.Glu214Asp
NM_001382700.1:c.1797G>C	NP_001369629.1:p.Glu599Asp
NM_001382701.1:c.1512G>C	NP_001369630.1:p.Glu504Asp
NM_001382702.1:c.294G>C	NP_001369631.1:p.Glu98Asp
NR_168483.1:n.742G>C