Canonical Allele Identifier: CA400558048

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566132A>C (hg19) ; chr17:g.63488771A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488771A>C , CM000679.2:g.63488771A>C	GRCh38
NC_000017.10:g.61566132A>C , CM000679.1:g.61566132A>C	GRCh37
NC_000017.9:g.58919864A>C	NCBI36
NG_011648.1:g.16699A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2429A>C MANE Select	ENSP00000290866.4:p.Asn810Thr
ENST00000290863.10:c.707A>C	ENSP00000290863.6:p.Asn236Thr
ENST00000290866.9:c.2429A>C	ENSP00000290866.4:p.Asn810Thr
ENST00000413513.7:c.707A>C	ENSP00000392247.3:p.Asn236Thr
ENST00000428043.5:c.2429A>C	ENSP00000397593.2:p.Asn810Thr
ENST00000577647.2:c.707A>C	ENSP00000464149.1:p.Asn236Thr
ENST00000578839.5:c.*499A>C	ENSP00000462110.2:n.*499A>C
ENST00000579204.1:c.688A>C	ENSP00000464629.1:n.688A>C
ENST00000579314.5:c.*158A>C	ENSP00000462599.1:n.*158A>C
ENST00000582005.5:c.*349A>C	ENSP00000462002.1:n.*349A>C
ENST00000582761.1:c.197A>C	ENSP00000462909.1:p.Asn66Thr
ENST00000584865.5:n.375A>C
NM_000789.3:c.2429A>C	NP_000780.1:p.Asn810Thr
NM_001178057.1:c.707A>C	NP_001171528.1:p.Asn236Thr
NM_152830.2:c.707A>C	NP_690043.1:p.Asn236Thr
XM_005257110.1:c.1880A>C	XP_005257167.1:p.Asn627Thr
XM_006721737.2:c.767A>C	XP_006721800.2:p.Asn256Thr
XM_006721737.3:c.767A>C	XP_006721800.2:p.Asn256Thr
NM_000789.4:c.2429A>C MANE Select	NP_000780.1:p.Asn810Thr
NM_001178057.2:c.707A>C	NP_001171528.1:p.Asn236Thr
NM_152830.3:c.707A>C	NP_690043.1:p.Asn236Thr
NM_001382700.1:c.1862A>C	NP_001369629.1:p.Asn621Thr
NM_001382701.1:c.1577A>C	NP_001369630.1:p.Asn526Thr
NM_001382702.1:c.359A>C	NP_001369631.1:p.Asn120Thr
NR_168483.1:n.807A>C