Canonical Allele Identifier: CA400567489

Gene: ACE

Linked Data

• dbSNP Id: rs1304453464
• gnomAD v2: 17-61574283-A-G
• gnomAD v4: 17-63496922-A-G
• MyVariant Identifiers: chr17:g.61574283A>G (hg19) ; chr17:g.63496922A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496922A>G , CM000679.2:g.63496922A>G	GRCh38
NC_000017.10:g.61574283A>G , CM000679.1:g.61574283A>G	GRCh37
NC_000017.9:g.58928015A>G	NCBI36
NG_011648.1:g.24850A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3628A>G MANE Select	ENSP00000290866.4:p.Thr1210Ala
ENST00000290863.10:c.1906A>G	ENSP00000290863.6:p.Thr636Ala
ENST00000290866.9:c.3628A>G	ENSP00000290866.4:p.Thr1210Ala
ENST00000413513.7:c.1783A>G	ENSP00000392247.3:p.Thr595Ala
ENST00000428043.5:c.3628A>G	ENSP00000397593.2:p.Thr1210Ala
ENST00000577418.5:n.638A>G
ENST00000577647.2:c.1906A>G	ENSP00000464149.1:p.Thr636Ala
ENST00000578839.5:c.*1383A>G	ENSP00000462110.2:n.*1383A>G
ENST00000579314.5:c.*1357A>G	ENSP00000462599.1:n.*1357A>G
ENST00000579409.1:c.315A>G
ENST00000582244.1:n.502A>G
NM_000789.3:c.3628A>G	NP_000780.1:p.Thr1210Ala
NM_001178057.1:c.1783A>G	NP_001171528.1:p.Thr595Ala
NM_152830.2:c.1906A>G	NP_690043.1:p.Thr636Ala
XM_005257110.1:c.3079A>G	XP_005257167.1:p.Thr1027Ala
XM_006721737.2:c.1966A>G	XP_006721800.2:p.Thr656Ala
XM_006721737.3:c.1966A>G	XP_006721800.2:p.Thr656Ala
NM_000789.4:c.3628A>G MANE Select	NP_000780.1:p.Thr1210Ala
NM_001178057.2:c.1783A>G	NP_001171528.1:p.Thr595Ala
NM_152830.3:c.1906A>G	NP_690043.1:p.Thr636Ala
NM_001382700.1:c.3061A>G	NP_001369629.1:p.Thr1021Ala
NM_001382701.1:c.2776A>G	NP_001369630.1:p.Thr926Ala
NM_001382702.1:c.1243A>G	NP_001369631.1:p.Thr415Ala
NR_168483.1:n.2006A>G