Canonical Allele Identifier: CA501342429

Gene: ACE

Linked Data

• ClinVar Variation Id: 891216
• ClinVar RCV Id: RCV001126366
• dbSNP Id: rs138240046
• MyVariant Identifiers: chr17:g.61574285G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496924G>C , CM000679.2:g.63496924G>C	GRCh38
NC_000017.10:g.61574285G>C , CM000679.1:g.61574285G>C	GRCh37
NC_000017.9:g.58928017G>C	NCBI36
NG_011648.1:g.24852G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3630G>C MANE Select	ENSP00000290866.4:p.Thr1210=
ENST00000290863.10:c.1908G>C	ENSP00000290863.6:p.Thr636=
ENST00000290866.9:c.3630G>C	ENSP00000290866.4:p.Thr1210=
ENST00000413513.7:c.1785G>C	ENSP00000392247.3:p.Thr595=
ENST00000428043.5:c.3630G>C	ENSP00000397593.2:p.Thr1210=
ENST00000577418.5:n.640G>C
ENST00000577647.2:c.1908G>C	ENSP00000464149.1:p.Thr636=
ENST00000578839.5:c.*1385G>C	ENSP00000462110.2:n.*1385G>C
ENST00000579314.5:c.*1359G>C	ENSP00000462599.1:n.*1359G>C
ENST00000579409.1:c.317G>C
ENST00000582244.1:n.504G>C
NM_000789.3:c.3630G>C	NP_000780.1:p.Thr1210=
NM_001178057.1:c.1785G>C	NP_001171528.1:p.Thr595=
NM_152830.2:c.1908G>C	NP_690043.1:p.Thr636=
XM_005257110.1:c.3081G>C	XP_005257167.1:p.Thr1027=
XM_006721737.2:c.1968G>C	XP_006721800.2:p.Thr656=
XM_006721737.3:c.1968G>C	XP_006721800.2:p.Thr656=
NM_000789.4:c.3630G>C MANE Select	NP_000780.1:p.Thr1210=
NM_001178057.2:c.1785G>C	NP_001171528.1:p.Thr595=
NM_152830.3:c.1908G>C	NP_690043.1:p.Thr636=
NM_001382700.1:c.3063G>C	NP_001369629.1:p.Thr1021=
NM_001382701.1:c.2778G>C	NP_001369630.1:p.Thr926=
NM_001382702.1:c.1245G>C	NP_001369631.1:p.Thr415=
NR_168483.1:n.2008G>C