Canonical Allele Identifier: CA400569682

Gene: ACE

Linked Data

• dbSNP Id: rs2030828586
• MyVariant Identifiers: chr17:g.61574695T>C (hg19) ; chr17:g.63497334T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497334T>C , CM000679.2:g.63497334T>C	GRCh38
NC_000017.10:g.61574695T>C , CM000679.1:g.61574695T>C	GRCh37
NC_000017.9:g.58928427T>C	NCBI36
NG_011648.1:g.25262T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3889T>C MANE Select	ENSP00000290866.4:p.Phe1297Leu
ENST00000290863.10:c.2167T>C	ENSP00000290863.6:p.Phe723Leu
ENST00000290866.9:c.3889T>C	ENSP00000290866.4:p.Phe1297Leu
ENST00000413513.7:c.2044T>C	ENSP00000392247.3:p.Phe682Leu
ENST00000428043.5:c.*311T>C	ENSP00000397593.2:n.*311T>C
ENST00000577647.2:c.1969+349T>C	ENSP00000464149.1:n.1969+349T>C
ENST00000578839.5:c.*1644T>C	ENSP00000462110.2:n.*1644T>C
ENST00000579314.5:c.*1618T>C	ENSP00000462599.1:n.*1618T>C
NM_000789.3:c.3889T>C	NP_000780.1:p.Phe1297Leu
NM_001178057.1:c.2044T>C	NP_001171528.1:p.Phe682Leu
NM_152830.2:c.2167T>C	NP_690043.1:p.Phe723Leu
XM_005257110.1:c.3340T>C	XP_005257167.1:p.Phe1114Leu
XM_006721737.2:c.2227T>C	XP_006721800.2:p.Phe743Leu
XM_006721737.3:c.2227T>C	XP_006721800.2:p.Phe743Leu
NM_000789.4:c.3889T>C MANE Select	NP_000780.1:p.Phe1297Leu
NM_001178057.2:c.2044T>C	NP_001171528.1:p.Phe682Leu
NM_152830.3:c.2167T>C	NP_690043.1:p.Phe723Leu
NM_001382700.1:c.3322T>C	NP_001369629.1:p.Phe1108Leu
NM_001382701.1:c.3037T>C	NP_001369630.1:p.Phe1013Leu
NM_001382702.1:c.1504T>C	NP_001369631.1:p.Phe502Leu
NR_168483.1:n.2267T>C