Canonical Allele Identifier: CA400558107

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566152G>T (hg19) ; chr17:g.63488791G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488791G>T , CM000679.2:g.63488791G>T	GRCh38
NC_000017.10:g.61566152G>T , CM000679.1:g.61566152G>T	GRCh37
NC_000017.9:g.58919884G>T	NCBI36
NG_011648.1:g.16719G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2449G>T MANE Select	ENSP00000290866.4:p.Gly817Cys
ENST00000290863.10:c.727G>T	ENSP00000290863.6:p.Gly243Cys
ENST00000290866.9:c.2449G>T	ENSP00000290866.4:p.Gly817Cys
ENST00000413513.7:c.727G>T	ENSP00000392247.3:p.Gly243Cys
ENST00000428043.5:c.2449G>T	ENSP00000397593.2:p.Gly817Cys
ENST00000577647.2:c.727G>T	ENSP00000464149.1:p.Gly243Cys
ENST00000578839.5:c.*519G>T	ENSP00000462110.2:n.*519G>T
ENST00000579204.1:c.708G>T	ENSP00000464629.1:n.708G>T
ENST00000579314.5:c.*178G>T	ENSP00000462599.1:n.*178G>T
ENST00000582005.5:c.*369G>T	ENSP00000462002.1:n.*369G>T
ENST00000582761.1:c.217G>T	ENSP00000462909.1:p.Gly73Cys
ENST00000584865.5:n.395G>T
NM_000789.3:c.2449G>T	NP_000780.1:p.Gly817Cys
NM_001178057.1:c.727G>T	NP_001171528.1:p.Gly243Cys
NM_152830.2:c.727G>T	NP_690043.1:p.Gly243Cys
XM_005257110.1:c.1900G>T	XP_005257167.1:p.Gly634Cys
XM_006721737.2:c.787G>T	XP_006721800.2:p.Gly263Cys
XM_006721737.3:c.787G>T	XP_006721800.2:p.Gly263Cys
NM_000789.4:c.2449G>T MANE Select	NP_000780.1:p.Gly817Cys
NM_001178057.2:c.727G>T	NP_001171528.1:p.Gly243Cys
NM_152830.3:c.727G>T	NP_690043.1:p.Gly243Cys
NM_001382700.1:c.1882G>T	NP_001369629.1:p.Gly628Cys
NM_001382701.1:c.1597G>T	NP_001369630.1:p.Gly533Cys
NM_001382702.1:c.379G>T	NP_001369631.1:p.Gly127Trp
NR_168483.1:n.827G>T