Canonical Allele Identifier: CA400557994

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566107T>G (hg19) ; chr17:g.63488746T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488746T>G , CM000679.2:g.63488746T>G	GRCh38
NC_000017.10:g.61566107T>G , CM000679.1:g.61566107T>G	GRCh37
NC_000017.9:g.58919839T>G	NCBI36
NG_011648.1:g.16674T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2404T>G MANE Select	ENSP00000290866.4:p.Tyr802Asp
ENST00000290863.10:c.682T>G	ENSP00000290863.6:p.Tyr228Asp
ENST00000290866.9:c.2404T>G	ENSP00000290866.4:p.Tyr802Asp
ENST00000413513.7:c.682T>G	ENSP00000392247.3:p.Tyr228Asp
ENST00000428043.5:c.2404T>G	ENSP00000397593.2:p.Tyr802Asp
ENST00000577647.2:c.682T>G	ENSP00000464149.1:p.Tyr228Asp
ENST00000578839.5:c.*474T>G	ENSP00000462110.2:n.*474T>G
ENST00000579204.1:c.663T>G	ENSP00000464629.1:n.663T>G
ENST00000579314.5:c.*133T>G	ENSP00000462599.1:n.*133T>G
ENST00000582005.5:c.*324T>G	ENSP00000462002.1:n.*324T>G
ENST00000582761.1:c.172T>G	ENSP00000462909.1:p.Tyr58Asp
ENST00000584865.5:n.350T>G
NM_000789.3:c.2404T>G	NP_000780.1:p.Tyr802Asp
NM_001178057.1:c.682T>G	NP_001171528.1:p.Tyr228Asp
NM_152830.2:c.682T>G	NP_690043.1:p.Tyr228Asp
XM_005257110.1:c.1855T>G	XP_005257167.1:p.Tyr619Asp
XM_006721737.2:c.742T>G	XP_006721800.2:p.Tyr248Asp
XM_006721737.3:c.742T>G	XP_006721800.2:p.Tyr248Asp
NM_000789.4:c.2404T>G MANE Select	NP_000780.1:p.Tyr802Asp
NM_001178057.2:c.682T>G	NP_001171528.1:p.Tyr228Asp
NM_152830.3:c.682T>G	NP_690043.1:p.Tyr228Asp
NM_001382700.1:c.1837T>G	NP_001369629.1:p.Tyr613Asp
NM_001382701.1:c.1552T>G	NP_001369630.1:p.Tyr518Asp
NM_001382702.1:c.334T>G	NP_001369631.1:p.Tyr112Asp
NR_168483.1:n.782T>G