Canonical Allele Identifier: CA400558212

Gene: ACE

Linked Data

• dbSNP Id: rs1696312109
• gnomAD v3: 17-63488985-C-A
• gnomAD v4: 17-63488985-C-A
• MyVariant Identifiers: chr17:g.61566346C>A (hg19) ; chr17:g.63488985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488985C>A , CM000679.2:g.63488985C>A	GRCh38
NC_000017.10:g.61566346C>A , CM000679.1:g.61566346C>A	GRCh37
NC_000017.9:g.58920078C>A	NCBI36
NG_011648.1:g.16913C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2494C>A MANE Select	ENSP00000290866.4:p.Pro832Thr
ENST00000290863.10:c.772C>A	ENSP00000290863.6:p.Pro258Thr
ENST00000290866.9:c.2494C>A	ENSP00000290866.4:p.Pro832Thr
ENST00000413513.7:c.772C>A	ENSP00000392247.3:p.Pro258Thr
ENST00000428043.5:c.2494C>A	ENSP00000397593.2:p.Pro832Thr
ENST00000577647.2:c.772C>A	ENSP00000464149.1:p.Pro258Thr
ENST00000578839.5:c.*519+194C>A	ENSP00000462110.2:n.*519+194C>A
ENST00000579204.1:c.753C>A	ENSP00000464629.1:n.753C>A
ENST00000579314.5:c.*223C>A	ENSP00000462599.1:n.*223C>A
ENST00000582005.5:c.*414C>A	ENSP00000462002.1:n.*414C>A
ENST00000582761.1:c.262C>A	ENSP00000462909.1:p.Pro88Thr
ENST00000584865.5:n.440C>A
NM_000789.3:c.2494C>A	NP_000780.1:p.Pro832Thr
NM_001178057.1:c.772C>A	NP_001171528.1:p.Pro258Thr
NM_152830.2:c.772C>A	NP_690043.1:p.Pro258Thr
XM_005257110.1:c.1945C>A	XP_005257167.1:p.Pro649Thr
XM_006721737.2:c.832C>A	XP_006721800.2:p.Pro278Thr
XM_006721737.3:c.832C>A	XP_006721800.2:p.Pro278Thr
NM_000789.4:c.2494C>A MANE Select	NP_000780.1:p.Pro832Thr
NM_001178057.2:c.772C>A	NP_001171528.1:p.Pro258Thr
NM_152830.3:c.772C>A	NP_690043.1:p.Pro258Thr
NM_001382700.1:c.1927C>A	NP_001369629.1:p.Pro643Thr
NM_001382701.1:c.1642C>A	NP_001369630.1:p.Pro548Thr
NM_001382702.1:c.379+194C>A	NP_001369631.1:n.379+194C>A
NR_168483.1:n.872C>A