Canonical Allele Identifier: CA400567258

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574253T>G (hg19) ; chr17:g.63496892T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496892T>G , CM000679.2:g.63496892T>G	GRCh38
NC_000017.10:g.61574253T>G , CM000679.1:g.61574253T>G	GRCh37
NC_000017.9:g.58927985T>G	NCBI36
NG_011648.1:g.24820T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3598T>G MANE Select	ENSP00000290866.4:p.Tyr1200Asp
ENST00000290863.10:c.1876T>G	ENSP00000290863.6:p.Tyr626Asp
ENST00000290866.9:c.3598T>G	ENSP00000290866.4:p.Tyr1200Asp
ENST00000413513.7:c.1753T>G	ENSP00000392247.3:p.Tyr585Asp
ENST00000428043.5:c.3598T>G	ENSP00000397593.2:p.Tyr1200Asp
ENST00000577418.5:n.608T>G
ENST00000577647.2:c.1876T>G	ENSP00000464149.1:p.Tyr626Asp
ENST00000578839.5:c.*1353T>G	ENSP00000462110.2:n.*1353T>G
ENST00000579314.5:c.*1327T>G	ENSP00000462599.1:n.*1327T>G
ENST00000579409.1:c.285T>G
ENST00000582244.1:n.472T>G
NM_000789.3:c.3598T>G	NP_000780.1:p.Tyr1200Asp
NM_001178057.1:c.1753T>G	NP_001171528.1:p.Tyr585Asp
NM_152830.2:c.1876T>G	NP_690043.1:p.Tyr626Asp
XM_005257110.1:c.3049T>G	XP_005257167.1:p.Tyr1017Asp
XM_006721737.2:c.1936T>G	XP_006721800.2:p.Tyr646Asp
XM_006721737.3:c.1936T>G	XP_006721800.2:p.Tyr646Asp
NM_000789.4:c.3598T>G MANE Select	NP_000780.1:p.Tyr1200Asp
NM_001178057.2:c.1753T>G	NP_001171528.1:p.Tyr585Asp
NM_152830.3:c.1876T>G	NP_690043.1:p.Tyr626Asp
NM_001382700.1:c.3031T>G	NP_001369629.1:p.Tyr1011Asp
NM_001382701.1:c.2746T>G	NP_001369630.1:p.Tyr916Asp
NM_001382702.1:c.1213T>G	NP_001369631.1:p.Tyr405Asp
NR_168483.1:n.1976T>G