Canonical Allele Identifier: CA400556140

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564018T>C (hg19) ; chr17:g.63486657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486657T>C , CM000679.2:g.63486657T>C	GRCh38
NC_000017.10:g.61564018T>C , CM000679.1:g.61564018T>C	GRCh37
NC_000017.9:g.58917750T>C	NCBI36
NG_011648.1:g.14585T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2159T>C MANE Select	ENSP00000290866.4:p.Ile720Thr
ENST00000290863.10:c.437T>C	ENSP00000290863.6:p.Ile146Thr
ENST00000290866.9:c.2159T>C	ENSP00000290866.4:p.Ile720Thr
ENST00000413513.7:c.437T>C	ENSP00000392247.3:p.Ile146Thr
ENST00000428043.5:c.2159T>C	ENSP00000397593.2:p.Ile720Thr
ENST00000577647.2:c.437T>C	ENSP00000464149.1:p.Ile146Thr
ENST00000578839.5:c.*229T>C	ENSP00000462110.2:n.*229T>C
ENST00000579204.1:c.340T>C	ENSP00000464629.1:n.340T>C
ENST00000579314.5:c.437T>C	ENSP00000462599.1:p.Ile146Thr
ENST00000579726.5:c.721T>C
ENST00000582005.5:c.*79T>C	ENSP00000462002.1:n.*79T>C
NM_000789.3:c.2159T>C	NP_000780.1:p.Ile720Thr
NM_001178057.1:c.437T>C	NP_001171528.1:p.Ile146Thr
NM_152830.2:c.437T>C	NP_690043.1:p.Ile146Thr
XM_005257110.1:c.1610T>C	XP_005257167.1:p.Ile537Thr
XM_006721737.2:c.497T>C	XP_006721800.2:p.Ile166Thr
XM_006721737.3:c.497T>C	XP_006721800.2:p.Ile166Thr
NM_000789.4:c.2159T>C MANE Select	NP_000780.1:p.Ile720Thr
NM_001178057.2:c.437T>C	NP_001171528.1:p.Ile146Thr
NM_152830.3:c.437T>C	NP_690043.1:p.Ile146Thr
NM_001382700.1:c.1592T>C	NP_001369629.1:p.Ile531Thr
NM_001382701.1:c.1307T>C	NP_001369630.1:p.Ile436Thr
NM_001382702.1:c.89T>C	NP_001369631.1:p.Ile30Thr
NR_168483.1:n.459T>C