Canonical Allele Identifier: CA400556726

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564378C>G (hg19) ; chr17:g.63487017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487017C>G , CM000679.2:g.63487017C>G	GRCh38
NC_000017.10:g.61564378C>G , CM000679.1:g.61564378C>G	GRCh37
NC_000017.9:g.58918110C>G	NCBI36
NG_011648.1:g.14945C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2249C>G MANE Select	ENSP00000290866.4:p.Thr750Ser
ENST00000290863.10:c.527C>G	ENSP00000290863.6:p.Thr176Ser
ENST00000290866.9:c.2249C>G	ENSP00000290866.4:p.Thr750Ser
ENST00000413513.7:c.527C>G	ENSP00000392247.3:p.Thr176Ser
ENST00000428043.5:c.2249C>G	ENSP00000397593.2:p.Thr750Ser
ENST00000577647.2:c.527C>G	ENSP00000464149.1:p.Thr176Ser
ENST00000578839.5:c.*319C>G	ENSP00000462110.2:n.*319C>G
ENST00000579204.1:c.430C>G	ENSP00000464629.1:n.430C>G
ENST00000579314.5:c.527C>G	ENSP00000462599.1:p.Thr176Ser
ENST00000579726.5:c.811C>G
ENST00000582005.5:c.*169C>G	ENSP00000462002.1:n.*169C>G
ENST00000582761.1:c.17C>G	ENSP00000462909.1:p.Thr6Ser
ENST00000584865.5:n.195C>G
NM_000789.3:c.2249C>G	NP_000780.1:p.Thr750Ser
NM_001178057.1:c.527C>G	NP_001171528.1:p.Thr176Ser
NM_152830.2:c.527C>G	NP_690043.1:p.Thr176Ser
XM_005257110.1:c.1700C>G	XP_005257167.1:p.Thr567Ser
XM_006721737.2:c.587C>G	XP_006721800.2:p.Thr196Ser
XM_006721737.3:c.587C>G	XP_006721800.2:p.Thr196Ser
NM_000789.4:c.2249C>G MANE Select	NP_000780.1:p.Thr750Ser
NM_001178057.2:c.527C>G	NP_001171528.1:p.Thr176Ser
NM_152830.3:c.527C>G	NP_690043.1:p.Thr176Ser
NM_001382700.1:c.1682C>G	NP_001369629.1:p.Thr561Ser
NM_001382701.1:c.1397C>G	NP_001369630.1:p.Thr466Ser
NM_001382702.1:c.179C>G	NP_001369631.1:p.Thr60Ser
NR_168483.1:n.549C>G