Canonical Allele Identifier: CA400558178

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566330G>C (hg19) ; chr17:g.63488969G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488969G>C , CM000679.2:g.63488969G>C	GRCh38
NC_000017.10:g.61566330G>C , CM000679.1:g.61566330G>C	GRCh37
NC_000017.9:g.58920062G>C	NCBI36
NG_011648.1:g.16897G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2478G>C MANE Select	ENSP00000290866.4:p.Arg826Ser
ENST00000290863.10:c.756G>C	ENSP00000290863.6:p.Arg252Ser
ENST00000290866.9:c.2478G>C	ENSP00000290866.4:p.Arg826Ser
ENST00000413513.7:c.756G>C	ENSP00000392247.3:p.Arg252Ser
ENST00000428043.5:c.2478G>C	ENSP00000397593.2:p.Arg826Ser
ENST00000577647.2:c.756G>C	ENSP00000464149.1:p.Arg252Ser
ENST00000578839.5:c.*519+178G>C	ENSP00000462110.2:n.*519+178G>C
ENST00000579204.1:c.737G>C	ENSP00000464629.1:n.737G>C
ENST00000579314.5:c.*207G>C	ENSP00000462599.1:n.*207G>C
ENST00000582005.5:c.*398G>C	ENSP00000462002.1:n.*398G>C
ENST00000582761.1:c.246G>C	ENSP00000462909.1:p.Arg82Ser
ENST00000584865.5:n.424G>C
NM_000789.3:c.2478G>C	NP_000780.1:p.Arg826Ser
NM_001178057.1:c.756G>C	NP_001171528.1:p.Arg252Ser
NM_152830.2:c.756G>C	NP_690043.1:p.Arg252Ser
XM_005257110.1:c.1929G>C	XP_005257167.1:p.Arg643Ser
XM_006721737.2:c.816G>C	XP_006721800.2:p.Arg272Ser
XM_006721737.3:c.816G>C	XP_006721800.2:p.Arg272Ser
NM_000789.4:c.2478G>C MANE Select	NP_000780.1:p.Arg826Ser
NM_001178057.2:c.756G>C	NP_001171528.1:p.Arg252Ser
NM_152830.3:c.756G>C	NP_690043.1:p.Arg252Ser
NM_001382700.1:c.1911G>C	NP_001369629.1:p.Arg637Ser
NM_001382701.1:c.1626G>C	NP_001369630.1:p.Arg542Ser
NM_001382702.1:c.379+178G>C	NP_001369631.1:n.379+178G>C
NR_168483.1:n.856G>C