Canonical Allele Identifier: CA400557914

Gene: ACE

Linked Data

• gnomAD v4: 17-63488708-G-C
• MyVariant Identifiers: chr17:g.61566069G>C (hg19) ; chr17:g.63488708G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488708G>C , CM000679.2:g.63488708G>C	GRCh38
NC_000017.10:g.61566069G>C , CM000679.1:g.61566069G>C	GRCh37
NC_000017.9:g.58919801G>C	NCBI36
NG_011648.1:g.16636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2366G>C MANE Select	ENSP00000290866.4:p.Gly789Ala
ENST00000290863.10:c.644G>C	ENSP00000290863.6:p.Gly215Ala
ENST00000290866.9:c.2366G>C	ENSP00000290866.4:p.Gly789Ala
ENST00000413513.7:c.644G>C	ENSP00000392247.3:p.Gly215Ala
ENST00000428043.5:c.2366G>C	ENSP00000397593.2:p.Gly789Ala
ENST00000577647.2:c.644G>C	ENSP00000464149.1:p.Gly215Ala
ENST00000578839.5:c.*436G>C	ENSP00000462110.2:n.*436G>C
ENST00000579204.1:c.625G>C	ENSP00000464629.1:n.625G>C
ENST00000579314.5:c.*95G>C	ENSP00000462599.1:n.*95G>C
ENST00000582005.5:c.*286G>C	ENSP00000462002.1:n.*286G>C
ENST00000582761.1:c.134G>C	ENSP00000462909.1:p.Gly45Ala
ENST00000584865.5:n.312G>C
NM_000789.3:c.2366G>C	NP_000780.1:p.Gly789Ala
NM_001178057.1:c.644G>C	NP_001171528.1:p.Gly215Ala
NM_152830.2:c.644G>C	NP_690043.1:p.Gly215Ala
XM_005257110.1:c.1817G>C	XP_005257167.1:p.Gly606Ala
XM_006721737.2:c.704G>C	XP_006721800.2:p.Gly235Ala
XM_006721737.3:c.704G>C	XP_006721800.2:p.Gly235Ala
NM_000789.4:c.2366G>C MANE Select	NP_000780.1:p.Gly789Ala
NM_001178057.2:c.644G>C	NP_001171528.1:p.Gly215Ala
NM_152830.3:c.644G>C	NP_690043.1:p.Gly215Ala
NM_001382700.1:c.1799G>C	NP_001369629.1:p.Gly600Ala
NM_001382701.1:c.1514G>C	NP_001369630.1:p.Gly505Ala
NM_001382702.1:c.296G>C	NP_001369631.1:p.Gly99Ala
NR_168483.1:n.744G>C