Canonical Allele Identifier: CA400567052

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574233G>C (hg19) ; chr17:g.63496872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496872G>C , CM000679.2:g.63496872G>C	GRCh38
NC_000017.10:g.61574233G>C , CM000679.1:g.61574233G>C	GRCh37
NC_000017.9:g.58927965G>C	NCBI36
NG_011648.1:g.24800G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3578G>C MANE Select	ENSP00000290866.4:p.Ser1193Thr
ENST00000290863.10:c.1856G>C	ENSP00000290863.6:p.Ser619Thr
ENST00000290866.9:c.3578G>C	ENSP00000290866.4:p.Ser1193Thr
ENST00000413513.7:c.1733G>C	ENSP00000392247.3:p.Ser578Thr
ENST00000428043.5:c.3578G>C	ENSP00000397593.2:p.Ser1193Thr
ENST00000577418.5:n.588G>C
ENST00000577647.2:c.1856G>C	ENSP00000464149.1:p.Ser619Thr
ENST00000578839.5:c.*1333G>C	ENSP00000462110.2:n.*1333G>C
ENST00000579314.5:c.*1307G>C	ENSP00000462599.1:n.*1307G>C
ENST00000579409.1:c.265G>C
ENST00000582244.1:n.452G>C
NM_000789.3:c.3578G>C	NP_000780.1:p.Ser1193Thr
NM_001178057.1:c.1733G>C	NP_001171528.1:p.Ser578Thr
NM_152830.2:c.1856G>C	NP_690043.1:p.Ser619Thr
XM_005257110.1:c.3029G>C	XP_005257167.1:p.Ser1010Thr
XM_006721737.2:c.1916G>C	XP_006721800.2:p.Ser639Thr
XM_006721737.3:c.1916G>C	XP_006721800.2:p.Ser639Thr
NM_000789.4:c.3578G>C MANE Select	NP_000780.1:p.Ser1193Thr
NM_001178057.2:c.1733G>C	NP_001171528.1:p.Ser578Thr
NM_152830.3:c.1856G>C	NP_690043.1:p.Ser619Thr
NM_001382700.1:c.3011G>C	NP_001369629.1:p.Ser1004Thr
NM_001382701.1:c.2726G>C	NP_001369630.1:p.Ser909Thr
NM_001382702.1:c.1193G>C	NP_001369631.1:p.Ser398Thr
NR_168483.1:n.1956G>C