Canonical Allele Identifier: CA400558431

Gene: ACE

Linked Data

• dbSNP Id: rs2030192889
• gnomAD v4: 17-63489027-C-T
• MyVariant Identifiers: chr17:g.61566388C>T (hg19) ; chr17:g.63489027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489027C>T , CM000679.2:g.63489027C>T	GRCh38
NC_000017.10:g.61566388C>T , CM000679.1:g.61566388C>T	GRCh37
NC_000017.9:g.58920120C>T	NCBI36
NG_011648.1:g.16955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2536C>T MANE Select	ENSP00000290866.4:p.Gln846Ter
ENST00000290863.10:c.814C>T	ENSP00000290863.6:p.Gln272Ter
ENST00000290866.9:c.2536C>T	ENSP00000290866.4:p.Gln846Ter
ENST00000413513.7:c.814C>T	ENSP00000392247.3:p.Gln272Ter
ENST00000428043.5:c.2536C>T	ENSP00000397593.2:p.Gln846Ter
ENST00000577647.2:c.814C>T	ENSP00000464149.1:p.Gln272Ter
ENST00000578839.5:c.*519+236C>T	ENSP00000462110.2:n.*519+236C>T
ENST00000579204.1:c.795C>T	ENSP00000464629.1:n.795C>T
ENST00000579314.5:c.*265C>T	ENSP00000462599.1:n.*265C>T
ENST00000582005.5:c.*456C>T	ENSP00000462002.1:n.*456C>T
ENST00000582761.1:c.304C>T	ENSP00000462909.1:p.Gln102Ter
ENST00000584865.5:n.482C>T
NM_000789.3:c.2536C>T	NP_000780.1:p.Gln846Ter
NM_001178057.1:c.814C>T	NP_001171528.1:p.Gln272Ter
NM_152830.2:c.814C>T	NP_690043.1:p.Gln272Ter
XM_005257110.1:c.1987C>T	XP_005257167.1:p.Gln663Ter
XM_006721737.2:c.874C>T	XP_006721800.2:p.Gln292Ter
XM_006721737.3:c.874C>T	XP_006721800.2:p.Gln292Ter
NM_000789.4:c.2536C>T MANE Select	NP_000780.1:p.Gln846Ter
NM_001178057.2:c.814C>T	NP_001171528.1:p.Gln272Ter
NM_152830.3:c.814C>T	NP_690043.1:p.Gln272Ter
NM_001382700.1:c.1969C>T	NP_001369629.1:p.Gln657Ter
NM_001382701.1:c.1684C>T	NP_001369630.1:p.Gln562Ter
NM_001382702.1:c.379+236C>T	NP_001369631.1:n.379+236C>T
NR_168483.1:n.914C>T