Canonical Allele Identifier: CA400556705

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564373A>T (hg19) ; chr17:g.63487012A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487012A>T , CM000679.2:g.63487012A>T	GRCh38
NC_000017.10:g.61564373A>T , CM000679.1:g.61564373A>T	GRCh37
NC_000017.9:g.58918105A>T	NCBI36
NG_011648.1:g.14940A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2244A>T MANE Select	ENSP00000290866.4:p.Glu748Asp
ENST00000290863.10:c.522A>T	ENSP00000290863.6:p.Glu174Asp
ENST00000290866.9:c.2244A>T	ENSP00000290866.4:p.Glu748Asp
ENST00000413513.7:c.522A>T	ENSP00000392247.3:p.Glu174Asp
ENST00000428043.5:c.2244A>T	ENSP00000397593.2:p.Glu748Asp
ENST00000577647.2:c.522A>T	ENSP00000464149.1:p.Glu174Asp
ENST00000578839.5:c.*314A>T	ENSP00000462110.2:n.*314A>T
ENST00000579204.1:c.425A>T	ENSP00000464629.1:n.425A>T
ENST00000579314.5:c.522A>T	ENSP00000462599.1:p.Glu174Asp
ENST00000579726.5:c.806A>T
ENST00000582005.5:c.*164A>T	ENSP00000462002.1:n.*164A>T
ENST00000582761.1:c.12A>T	ENSP00000462909.1:p.Glu4Asp
ENST00000584865.5:n.190A>T
NM_000789.3:c.2244A>T	NP_000780.1:p.Glu748Asp
NM_001178057.1:c.522A>T	NP_001171528.1:p.Glu174Asp
NM_152830.2:c.522A>T	NP_690043.1:p.Glu174Asp
XM_005257110.1:c.1695A>T	XP_005257167.1:p.Glu565Asp
XM_006721737.2:c.582A>T	XP_006721800.2:p.Glu194Asp
XM_006721737.3:c.582A>T	XP_006721800.2:p.Glu194Asp
NM_000789.4:c.2244A>T MANE Select	NP_000780.1:p.Glu748Asp
NM_001178057.2:c.522A>T	NP_001171528.1:p.Glu174Asp
NM_152830.3:c.522A>T	NP_690043.1:p.Glu174Asp
NM_001382700.1:c.1677A>T	NP_001369629.1:p.Glu559Asp
NM_001382701.1:c.1392A>T	NP_001369630.1:p.Glu464Asp
NM_001382702.1:c.174A>T	NP_001369631.1:p.Glu58Asp
NR_168483.1:n.544A>T