Canonical Allele Identifier: CA400556538

Gene: ACE

Linked Data

• gnomAD v4: 17-63486988-C-A
• MyVariant Identifiers: chr17:g.61564349C>A (hg19) ; chr17:g.63486988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486988C>A , CM000679.2:g.63486988C>A	GRCh38
NC_000017.10:g.61564349C>A , CM000679.1:g.61564349C>A	GRCh37
NC_000017.9:g.58918081C>A	NCBI36
NG_011648.1:g.14916C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2220C>A MANE Select	ENSP00000290866.4:p.Tyr740Ter
ENST00000290863.10:c.498C>A	ENSP00000290863.6:p.Tyr166Ter
ENST00000290866.9:c.2220C>A	ENSP00000290866.4:p.Tyr740Ter
ENST00000413513.7:c.498C>A	ENSP00000392247.3:p.Tyr166Ter
ENST00000428043.5:c.2220C>A	ENSP00000397593.2:p.Tyr740Ter
ENST00000577647.2:c.498C>A	ENSP00000464149.1:p.Tyr166Ter
ENST00000578839.5:c.*290C>A	ENSP00000462110.2:n.*290C>A
ENST00000579204.1:c.401C>A	ENSP00000464629.1:n.401C>A
ENST00000579314.5:c.498C>A	ENSP00000462599.1:p.Tyr166Ter
ENST00000579726.5:c.782C>A
ENST00000582005.5:c.*140C>A	ENSP00000462002.1:n.*140C>A
ENST00000584865.5:n.166C>A
NM_000789.3:c.2220C>A	NP_000780.1:p.Tyr740Ter
NM_001178057.1:c.498C>A	NP_001171528.1:p.Tyr166Ter
NM_152830.2:c.498C>A	NP_690043.1:p.Tyr166Ter
XM_005257110.1:c.1671C>A	XP_005257167.1:p.Tyr557Ter
XM_006721737.2:c.558C>A	XP_006721800.2:p.Tyr186Ter
XM_006721737.3:c.558C>A	XP_006721800.2:p.Tyr186Ter
NM_000789.4:c.2220C>A MANE Select	NP_000780.1:p.Tyr740Ter
NM_001178057.2:c.498C>A	NP_001171528.1:p.Tyr166Ter
NM_152830.3:c.498C>A	NP_690043.1:p.Tyr166Ter
NM_001382700.1:c.1653C>A	NP_001369629.1:p.Tyr551Ter
NM_001382701.1:c.1368C>A	NP_001369630.1:p.Tyr456Ter
NM_001382702.1:c.150C>A	NP_001369631.1:p.Tyr50Ter
NR_168483.1:n.520C>A