Canonical Allele Identifier: CA400556116

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564012A>C (hg19) ; chr17:g.63486651A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486651A>C , CM000679.2:g.63486651A>C	GRCh38
NC_000017.10:g.61564012A>C , CM000679.1:g.61564012A>C	GRCh37
NC_000017.9:g.58917744A>C	NCBI36
NG_011648.1:g.14579A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2153A>C MANE Select	ENSP00000290866.4:p.Lys718Thr
ENST00000290863.10:c.431A>C	ENSP00000290863.6:p.Lys144Thr
ENST00000290866.9:c.2153A>C	ENSP00000290866.4:p.Lys718Thr
ENST00000413513.7:c.431A>C	ENSP00000392247.3:p.Lys144Thr
ENST00000428043.5:c.2153A>C	ENSP00000397593.2:p.Lys718Thr
ENST00000577647.2:c.431A>C	ENSP00000464149.1:p.Lys144Thr
ENST00000578839.5:c.*223A>C	ENSP00000462110.2:n.*223A>C
ENST00000579204.1:c.334A>C	ENSP00000464629.1:n.334A>C
ENST00000579314.5:c.431A>C	ENSP00000462599.1:p.Lys144Thr
ENST00000579726.5:c.715A>C
ENST00000582005.5:c.*73A>C	ENSP00000462002.1:n.*73A>C
NM_000789.3:c.2153A>C	NP_000780.1:p.Lys718Thr
NM_001178057.1:c.431A>C	NP_001171528.1:p.Lys144Thr
NM_152830.2:c.431A>C	NP_690043.1:p.Lys144Thr
XM_005257110.1:c.1604A>C	XP_005257167.1:p.Lys535Thr
XM_006721737.2:c.491A>C	XP_006721800.2:p.Lys164Thr
XM_006721737.3:c.491A>C	XP_006721800.2:p.Lys164Thr
NM_000789.4:c.2153A>C MANE Select	NP_000780.1:p.Lys718Thr
NM_001178057.2:c.431A>C	NP_001171528.1:p.Lys144Thr
NM_152830.3:c.431A>C	NP_690043.1:p.Lys144Thr
NM_001382700.1:c.1586A>C	NP_001369629.1:p.Lys529Thr
NM_001382701.1:c.1301A>C	NP_001369630.1:p.Lys434Thr
NM_001382702.1:c.83A>C	NP_001369631.1:p.Lys28Thr
NR_168483.1:n.453A>C