Canonical Allele Identifier: CA501187610

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566145G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488784G>C , CM000679.2:g.63488784G>C	GRCh38
NC_000017.10:g.61566145G>C , CM000679.1:g.61566145G>C	GRCh37
NC_000017.9:g.58919877G>C	NCBI36
NG_011648.1:g.16712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2442G>C MANE Select	ENSP00000290866.4:p.Arg814=
ENST00000290863.10:c.720G>C	ENSP00000290863.6:p.Arg240=
ENST00000290866.9:c.2442G>C	ENSP00000290866.4:p.Arg814=
ENST00000413513.7:c.720G>C	ENSP00000392247.3:p.Arg240=
ENST00000428043.5:c.2442G>C	ENSP00000397593.2:p.Arg814=
ENST00000577647.2:c.720G>C	ENSP00000464149.1:p.Arg240=
ENST00000578839.5:c.*512G>C	ENSP00000462110.2:n.*512G>C
ENST00000579204.1:c.701G>C	ENSP00000464629.1:n.701G>C
ENST00000579314.5:c.*171G>C	ENSP00000462599.1:n.*171G>C
ENST00000582005.5:c.*362G>C	ENSP00000462002.1:n.*362G>C
ENST00000582761.1:c.210G>C	ENSP00000462909.1:p.Arg70=
ENST00000584865.5:n.388G>C
NM_000789.3:c.2442G>C	NP_000780.1:p.Arg814=
NM_001178057.1:c.720G>C	NP_001171528.1:p.Arg240=
NM_152830.2:c.720G>C	NP_690043.1:p.Arg240=
XM_005257110.1:c.1893G>C	XP_005257167.1:p.Arg631=
XM_006721737.2:c.780G>C	XP_006721800.2:p.Arg260=
XM_006721737.3:c.780G>C	XP_006721800.2:p.Arg260=
NM_000789.4:c.2442G>C MANE Select	NP_000780.1:p.Arg814=
NM_001178057.2:c.720G>C	NP_001171528.1:p.Arg240=
NM_152830.3:c.720G>C	NP_690043.1:p.Arg240=
NM_001382700.1:c.1875G>C	NP_001369629.1:p.Arg625=
NM_001382701.1:c.1590G>C	NP_001369630.1:p.Arg530=
NM_001382702.1:c.372G>C	NP_001369631.1:p.Arg124=
NR_168483.1:n.820G>C