Canonical Allele Identifier: CA400569030

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574623A>G (hg19) ; chr17:g.63497262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497262A>G , CM000679.2:g.63497262A>G	GRCh38
NC_000017.10:g.61574623A>G , CM000679.1:g.61574623A>G	GRCh37
NC_000017.9:g.58928355A>G	NCBI36
NG_011648.1:g.25190A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3817A>G MANE Select	ENSP00000290866.4:p.Thr1273Ala
ENST00000290863.10:c.2095A>G	ENSP00000290863.6:p.Thr699Ala
ENST00000290866.9:c.3817A>G	ENSP00000290866.4:p.Thr1273Ala
ENST00000413513.7:c.1972A>G	ENSP00000392247.3:p.Thr658Ala
ENST00000428043.5:c.*239A>G	ENSP00000397593.2:n.*239A>G
ENST00000577647.2:c.1969+277A>G	ENSP00000464149.1:n.1969+277A>G
ENST00000578839.5:c.*1572A>G	ENSP00000462110.2:n.*1572A>G
ENST00000579314.5:c.*1546A>G	ENSP00000462599.1:n.*1546A>G
NM_000789.3:c.3817A>G	NP_000780.1:p.Thr1273Ala
NM_001178057.1:c.1972A>G	NP_001171528.1:p.Thr658Ala
NM_152830.2:c.2095A>G	NP_690043.1:p.Thr699Ala
XM_005257110.1:c.3268A>G	XP_005257167.1:p.Thr1090Ala
XM_006721737.2:c.2155A>G	XP_006721800.2:p.Thr719Ala
XM_006721737.3:c.2155A>G	XP_006721800.2:p.Thr719Ala
NM_000789.4:c.3817A>G MANE Select	NP_000780.1:p.Thr1273Ala
NM_001178057.2:c.1972A>G	NP_001171528.1:p.Thr658Ala
NM_152830.3:c.2095A>G	NP_690043.1:p.Thr699Ala
NM_001382700.1:c.3250A>G	NP_001369629.1:p.Thr1084Ala
NM_001382701.1:c.2965A>G	NP_001369630.1:p.Thr989Ala
NM_001382702.1:c.1432A>G	NP_001369631.1:p.Thr478Ala
NR_168483.1:n.2195A>G