Canonical Allele Identifier: CA400556031

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563997A>C (hg19) ; chr17:g.63486636A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486636A>C , CM000679.2:g.63486636A>C	GRCh38
NC_000017.10:g.61563997A>C , CM000679.1:g.61563997A>C	GRCh37
NC_000017.9:g.58917729A>C	NCBI36
NG_011648.1:g.14564A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2138A>C MANE Select	ENSP00000290866.4:p.Gln713Pro
ENST00000290863.10:c.416A>C	ENSP00000290863.6:p.Gln139Pro
ENST00000290866.9:c.2138A>C	ENSP00000290866.4:p.Gln713Pro
ENST00000413513.7:c.416A>C	ENSP00000392247.3:p.Gln139Pro
ENST00000428043.5:c.2138A>C	ENSP00000397593.2:p.Gln713Pro
ENST00000577647.2:c.416A>C	ENSP00000464149.1:p.Gln139Pro
ENST00000578839.5:c.*208A>C	ENSP00000462110.2:n.*208A>C
ENST00000579204.1:c.319A>C	ENSP00000464629.1:n.319A>C
ENST00000579314.5:c.416A>C	ENSP00000462599.1:p.Gln139Pro
ENST00000579726.5:c.700A>C
ENST00000582005.5:c.*58A>C	ENSP00000462002.1:n.*58A>C
NM_000789.3:c.2138A>C	NP_000780.1:p.Gln713Pro
NM_001178057.1:c.416A>C	NP_001171528.1:p.Gln139Pro
NM_152830.2:c.416A>C	NP_690043.1:p.Gln139Pro
XM_005257110.1:c.1589A>C	XP_005257167.1:p.Gln530Pro
XM_006721737.2:c.476A>C	XP_006721800.2:p.Gln159Pro
XM_006721737.3:c.476A>C	XP_006721800.2:p.Gln159Pro
NM_000789.4:c.2138A>C MANE Select	NP_000780.1:p.Gln713Pro
NM_001178057.2:c.416A>C	NP_001171528.1:p.Gln139Pro
NM_152830.3:c.416A>C	NP_690043.1:p.Gln139Pro
NM_001382700.1:c.1571A>C	NP_001369629.1:p.Gln524Pro
NM_001382701.1:c.1286A>C	NP_001369630.1:p.Gln429Pro
NM_001382702.1:c.68A>C	NP_001369631.1:p.Gln23Pro
NR_168483.1:n.438A>C