Canonical Allele Identifier: CA292881821

Gene: ACE

Linked Data

• dbSNP Id: rs921762904
• MyVariant Identifiers: chr17:g.61564371G>A (hg19) ; chr17:g.63487010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487010G>A , CM000679.2:g.63487010G>A	GRCh38
NC_000017.10:g.61564371G>A , CM000679.1:g.61564371G>A	GRCh37
NC_000017.9:g.58918103G>A	NCBI36
NG_011648.1:g.14938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2242G>A MANE Select	ENSP00000290866.4:p.Glu748Lys
ENST00000290863.10:c.520G>A	ENSP00000290863.6:p.Glu174Lys
ENST00000290866.9:c.2242G>A	ENSP00000290866.4:p.Glu748Lys
ENST00000413513.7:c.520G>A	ENSP00000392247.3:p.Glu174Lys
ENST00000428043.5:c.2242G>A	ENSP00000397593.2:p.Glu748Lys
ENST00000577647.2:c.520G>A	ENSP00000464149.1:p.Glu174Lys
ENST00000578839.5:c.*312G>A	ENSP00000462110.2:n.*312G>A
ENST00000579204.1:c.423G>A	ENSP00000464629.1:n.423G>A
ENST00000579314.5:c.520G>A	ENSP00000462599.1:p.Glu174Lys
ENST00000579726.5:c.804G>A
ENST00000582005.5:c.*162G>A	ENSP00000462002.1:n.*162G>A
ENST00000582761.1:c.10G>A	ENSP00000462909.1:p.Glu4Lys
ENST00000584865.5:n.188G>A
NM_000789.3:c.2242G>A	NP_000780.1:p.Glu748Lys
NM_001178057.1:c.520G>A	NP_001171528.1:p.Glu174Lys
NM_152830.2:c.520G>A	NP_690043.1:p.Glu174Lys
XM_005257110.1:c.1693G>A	XP_005257167.1:p.Glu565Lys
XM_006721737.2:c.580G>A	XP_006721800.2:p.Glu194Lys
XM_006721737.3:c.580G>A	XP_006721800.2:p.Glu194Lys
NM_000789.4:c.2242G>A MANE Select	NP_000780.1:p.Glu748Lys
NM_001178057.2:c.520G>A	NP_001171528.1:p.Glu174Lys
NM_152830.3:c.520G>A	NP_690043.1:p.Glu174Lys
NM_001382700.1:c.1675G>A	NP_001369629.1:p.Glu559Lys
NM_001382701.1:c.1390G>A	NP_001369630.1:p.Glu464Lys
NM_001382702.1:c.172G>A	NP_001369631.1:p.Glu58Lys
NR_168483.1:n.542G>A