Canonical Allele Identifier: CA400569039

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574624C>G (hg19) ; chr17:g.63497263C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497263C>G , CM000679.2:g.63497263C>G	GRCh38
NC_000017.10:g.61574624C>G , CM000679.1:g.61574624C>G	GRCh37
NC_000017.9:g.58928356C>G	NCBI36
NG_011648.1:g.25191C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3818C>G MANE Select	ENSP00000290866.4:p.Thr1273Ser
ENST00000290863.10:c.2096C>G	ENSP00000290863.6:p.Thr699Ser
ENST00000290866.9:c.3818C>G	ENSP00000290866.4:p.Thr1273Ser
ENST00000413513.7:c.1973C>G	ENSP00000392247.3:p.Thr658Ser
ENST00000428043.5:c.*240C>G	ENSP00000397593.2:n.*240C>G
ENST00000577647.2:c.1969+278C>G	ENSP00000464149.1:n.1969+278C>G
ENST00000578839.5:c.*1573C>G	ENSP00000462110.2:n.*1573C>G
ENST00000579314.5:c.*1547C>G	ENSP00000462599.1:n.*1547C>G
NM_000789.3:c.3818C>G	NP_000780.1:p.Thr1273Ser
NM_001178057.1:c.1973C>G	NP_001171528.1:p.Thr658Ser
NM_152830.2:c.2096C>G	NP_690043.1:p.Thr699Ser
XM_005257110.1:c.3269C>G	XP_005257167.1:p.Thr1090Ser
XM_006721737.2:c.2156C>G	XP_006721800.2:p.Thr719Ser
XM_006721737.3:c.2156C>G	XP_006721800.2:p.Thr719Ser
NM_000789.4:c.3818C>G MANE Select	NP_000780.1:p.Thr1273Ser
NM_001178057.2:c.1973C>G	NP_001171528.1:p.Thr658Ser
NM_152830.3:c.2096C>G	NP_690043.1:p.Thr699Ser
NM_001382700.1:c.3251C>G	NP_001369629.1:p.Thr1084Ser
NM_001382701.1:c.2966C>G	NP_001369630.1:p.Thr989Ser
NM_001382702.1:c.1433C>G	NP_001369631.1:p.Thr478Ser
NR_168483.1:n.2196C>G