Canonical Allele Identifier: CA400558523

Gene: ACE

Linked Data

• gnomAD v4: 17-63489043-A-G
• MyVariant Identifiers: chr17:g.61566404A>G (hg19) ; chr17:g.63489043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489043A>G , CM000679.2:g.63489043A>G	GRCh38
NC_000017.10:g.61566404A>G , CM000679.1:g.61566404A>G	GRCh37
NC_000017.9:g.58920136A>G	NCBI36
NG_011648.1:g.16971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2552A>G MANE Select	ENSP00000290866.4:p.Asn851Ser
ENST00000290863.10:c.830A>G	ENSP00000290863.6:p.Asn277Ser
ENST00000290866.9:c.2552A>G	ENSP00000290866.4:p.Asn851Ser
ENST00000413513.7:c.830A>G	ENSP00000392247.3:p.Asn277Ser
ENST00000428043.5:c.2552A>G	ENSP00000397593.2:p.Asn851Ser
ENST00000577647.2:c.830A>G	ENSP00000464149.1:p.Asn277Ser
ENST00000578839.5:c.*519+252A>G	ENSP00000462110.2:n.*519+252A>G
ENST00000579314.5:c.*281A>G	ENSP00000462599.1:n.*281A>G
ENST00000582005.5:c.*472A>G	ENSP00000462002.1:n.*472A>G
ENST00000582761.1:c.320A>G	ENSP00000462909.1:p.Asn107Ser
ENST00000584865.5:n.498A>G
NM_000789.3:c.2552A>G	NP_000780.1:p.Asn851Ser
NM_001178057.1:c.830A>G	NP_001171528.1:p.Asn277Ser
NM_152830.2:c.830A>G	NP_690043.1:p.Asn277Ser
XM_005257110.1:c.2003A>G	XP_005257167.1:p.Asn668Ser
XM_006721737.2:c.890A>G	XP_006721800.2:p.Asn297Ser
XM_006721737.3:c.890A>G	XP_006721800.2:p.Asn297Ser
NM_000789.4:c.2552A>G MANE Select	NP_000780.1:p.Asn851Ser
NM_001178057.2:c.830A>G	NP_001171528.1:p.Asn277Ser
NM_152830.3:c.830A>G	NP_690043.1:p.Asn277Ser
NM_001382700.1:c.1985A>G	NP_001369629.1:p.Asn662Ser
NM_001382701.1:c.1700A>G	NP_001369630.1:p.Asn567Ser
NM_001382702.1:c.379+252A>G	NP_001369631.1:n.379+252A>G
NR_168483.1:n.930A>G