Canonical Allele Identifier: CA400569717

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574701T>G (hg19) ; chr17:g.63497340T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497340T>G , CM000679.2:g.63497340T>G	GRCh38
NC_000017.10:g.61574701T>G , CM000679.1:g.61574701T>G	GRCh37
NC_000017.9:g.58928433T>G	NCBI36
NG_011648.1:g.25268T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3895T>G MANE Select	ENSP00000290866.4:p.Ser1299Ala
ENST00000290863.10:c.2173T>G	ENSP00000290863.6:p.Ser725Ala
ENST00000290866.9:c.3895T>G	ENSP00000290866.4:p.Ser1299Ala
ENST00000413513.7:c.2050T>G	ENSP00000392247.3:p.Ser684Ala
ENST00000428043.5:c.*317T>G	ENSP00000397593.2:n.*317T>G
ENST00000577647.2:c.1969+355T>G	ENSP00000464149.1:n.1969+355T>G
ENST00000578839.5:c.*1650T>G	ENSP00000462110.2:n.*1650T>G
ENST00000579314.5:c.*1624T>G	ENSP00000462599.1:n.*1624T>G
NM_000789.3:c.3895T>G	NP_000780.1:p.Ser1299Ala
NM_001178057.1:c.2050T>G	NP_001171528.1:p.Ser684Ala
NM_152830.2:c.2173T>G	NP_690043.1:p.Ser725Ala
XM_005257110.1:c.3346T>G	XP_005257167.1:p.Ser1116Ala
XM_006721737.2:c.2233T>G	XP_006721800.2:p.Ser745Ala
XM_006721737.3:c.2233T>G	XP_006721800.2:p.Ser745Ala
NM_000789.4:c.3895T>G MANE Select	NP_000780.1:p.Ser1299Ala
NM_001178057.2:c.2050T>G	NP_001171528.1:p.Ser684Ala
NM_152830.3:c.2173T>G	NP_690043.1:p.Ser725Ala
NM_001382700.1:c.3328T>G	NP_001369629.1:p.Ser1110Ala
NM_001382701.1:c.3043T>G	NP_001369630.1:p.Ser1015Ala
NM_001382702.1:c.1510T>G	NP_001369631.1:p.Ser504Ala
NR_168483.1:n.2273T>G