Canonical Allele Identifier: CA400557948

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566086G>C (hg19) ; chr17:g.63488725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488725G>C , CM000679.2:g.63488725G>C	GRCh38
NC_000017.10:g.61566086G>C , CM000679.1:g.61566086G>C	GRCh37
NC_000017.9:g.58919818G>C	NCBI36
NG_011648.1:g.16653G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2383G>C MANE Select	ENSP00000290866.4:p.Gly795Arg
ENST00000290863.10:c.661G>C	ENSP00000290863.6:p.Gly221Arg
ENST00000290866.9:c.2383G>C	ENSP00000290866.4:p.Gly795Arg
ENST00000413513.7:c.661G>C	ENSP00000392247.3:p.Gly221Arg
ENST00000428043.5:c.2383G>C	ENSP00000397593.2:p.Gly795Arg
ENST00000577647.2:c.661G>C	ENSP00000464149.1:p.Gly221Arg
ENST00000578839.5:c.*453G>C	ENSP00000462110.2:n.*453G>C
ENST00000579204.1:c.642G>C	ENSP00000464629.1:n.642G>C
ENST00000579314.5:c.*112G>C	ENSP00000462599.1:n.*112G>C
ENST00000582005.5:c.*303G>C	ENSP00000462002.1:n.*303G>C
ENST00000582761.1:c.151G>C	ENSP00000462909.1:p.Gly51Arg
ENST00000584865.5:n.329G>C
NM_000789.3:c.2383G>C	NP_000780.1:p.Gly795Arg
NM_001178057.1:c.661G>C	NP_001171528.1:p.Gly221Arg
NM_152830.2:c.661G>C	NP_690043.1:p.Gly221Arg
XM_005257110.1:c.1834G>C	XP_005257167.1:p.Gly612Arg
XM_006721737.2:c.721G>C	XP_006721800.2:p.Gly241Arg
XM_006721737.3:c.721G>C	XP_006721800.2:p.Gly241Arg
NM_000789.4:c.2383G>C MANE Select	NP_000780.1:p.Gly795Arg
NM_001178057.2:c.661G>C	NP_001171528.1:p.Gly221Arg
NM_152830.3:c.661G>C	NP_690043.1:p.Gly221Arg
NM_001382700.1:c.1816G>C	NP_001369629.1:p.Gly606Arg
NM_001382701.1:c.1531G>C	NP_001369630.1:p.Gly511Arg
NM_001382702.1:c.313G>C	NP_001369631.1:p.Gly105Arg
NR_168483.1:n.761G>C