Canonical Allele Identifier: CA400556975

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564432C>A (hg19) ; chr17:g.63487071C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487071C>A , CM000679.2:g.63487071C>A	GRCh38
NC_000017.10:g.61564432C>A , CM000679.1:g.61564432C>A	GRCh37
NC_000017.9:g.58918164C>A	NCBI36
NG_011648.1:g.14999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2303C>A MANE Select	ENSP00000290866.4:p.Pro768Gln
ENST00000290863.10:c.581C>A	ENSP00000290863.6:p.Pro194Gln
ENST00000290866.9:c.2303C>A	ENSP00000290866.4:p.Pro768Gln
ENST00000413513.7:c.581C>A	ENSP00000392247.3:p.Pro194Gln
ENST00000428043.5:c.2303C>A	ENSP00000397593.2:p.Pro768Gln
ENST00000577647.2:c.581C>A	ENSP00000464149.1:p.Pro194Gln
ENST00000578839.5:c.*373C>A	ENSP00000462110.2:n.*373C>A
ENST00000579204.1:c.484C>A	ENSP00000464629.1:n.484C>A
ENST00000579314.5:c.581C>A	ENSP00000462599.1:p.Pro194Gln
ENST00000579726.5:c.865C>A
ENST00000582005.5:c.*223C>A	ENSP00000462002.1:n.*223C>A
ENST00000582761.1:c.71C>A	ENSP00000462909.1:p.Pro24Gln
ENST00000584865.5:n.249C>A
NM_000789.3:c.2303C>A	NP_000780.1:p.Pro768Gln
NM_001178057.1:c.581C>A	NP_001171528.1:p.Pro194Gln
NM_152830.2:c.581C>A	NP_690043.1:p.Pro194Gln
XM_005257110.1:c.1754C>A	XP_005257167.1:p.Pro585Gln
XM_006721737.2:c.641C>A	XP_006721800.2:p.Pro214Gln
XM_006721737.3:c.641C>A	XP_006721800.2:p.Pro214Gln
NM_000789.4:c.2303C>A MANE Select	NP_000780.1:p.Pro768Gln
NM_001178057.2:c.581C>A	NP_001171528.1:p.Pro194Gln
NM_152830.3:c.581C>A	NP_690043.1:p.Pro194Gln
NM_001382700.1:c.1736C>A	NP_001369629.1:p.Pro579Gln
NM_001382701.1:c.1451C>A	NP_001369630.1:p.Pro484Gln
NM_001382702.1:c.233C>A	NP_001369631.1:p.Pro78Gln
NR_168483.1:n.603C>A