Canonical Allele Identifier: CA400568345

Gene: ACE

Linked Data

• gnomAD v4: 17-63497151-C-G
• MyVariant Identifiers: chr17:g.61574512C>G (hg19) ; chr17:g.63497151C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497151C>G , CM000679.2:g.63497151C>G	GRCh38
NC_000017.10:g.61574512C>G , CM000679.1:g.61574512C>G	GRCh37
NC_000017.9:g.58928244C>G	NCBI36
NG_011648.1:g.25079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3706C>G MANE Select	ENSP00000290866.4:p.Pro1236Ala
ENST00000290863.10:c.1984C>G	ENSP00000290863.6:p.Pro662Ala
ENST00000290866.9:c.3706C>G	ENSP00000290866.4:p.Pro1236Ala
ENST00000413513.7:c.1861C>G	ENSP00000392247.3:p.Pro621Ala
ENST00000428043.5:c.*128C>G	ENSP00000397593.2:n.*128C>G
ENST00000577418.5:n.716C>G
ENST00000577647.2:c.1969+166C>G	ENSP00000464149.1:n.1969+166C>G
ENST00000578839.5:c.*1461C>G	ENSP00000462110.2:n.*1461C>G
ENST00000579314.5:c.*1435C>G	ENSP00000462599.1:n.*1435C>G
ENST00000579409.1:c.544C>G
NM_000789.3:c.3706C>G	NP_000780.1:p.Pro1236Ala
NM_001178057.1:c.1861C>G	NP_001171528.1:p.Pro621Ala
NM_152830.2:c.1984C>G	NP_690043.1:p.Pro662Ala
XM_005257110.1:c.3157C>G	XP_005257167.1:p.Pro1053Ala
XM_006721737.2:c.2044C>G	XP_006721800.2:p.Pro682Ala
XM_006721737.3:c.2044C>G	XP_006721800.2:p.Pro682Ala
NM_000789.4:c.3706C>G MANE Select	NP_000780.1:p.Pro1236Ala
NM_001178057.2:c.1861C>G	NP_001171528.1:p.Pro621Ala
NM_152830.3:c.1984C>G	NP_690043.1:p.Pro662Ala
NM_001382700.1:c.3139C>G	NP_001369629.1:p.Pro1047Ala
NM_001382701.1:c.2854C>G	NP_001369630.1:p.Pro952Ala
NM_001382702.1:c.1321C>G	NP_001369631.1:p.Pro441Ala
NR_168483.1:n.2084C>G