Canonical Allele Identifier: CA400569719

Gene: ACE

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3895T>A MANE Select	ENSP00000290866.4:p.Ser1299Thr
ENST00000290863.10:c.2173T>A	ENSP00000290863.6:p.Ser725Thr
ENST00000290866.9:c.3895T>A	ENSP00000290866.4:p.Ser1299Thr
ENST00000413513.7:c.2050T>A	ENSP00000392247.3:p.Ser684Thr
ENST00000428043.5:c.*317T>A	ENSP00000397593.2:n.*317T>A
ENST00000577647.2:c.1969+355T>A	ENSP00000464149.1:n.1969+355T>A
ENST00000578839.5:c.*1650T>A	ENSP00000462110.2:n.*1650T>A
ENST00000579314.5:c.*1624T>A	ENSP00000462599.1:n.*1624T>A
NM_000789.3:c.3895T>A	NP_000780.1:p.Ser1299Thr
NM_001178057.1:c.2050T>A	NP_001171528.1:p.Ser684Thr
NM_152830.2:c.2173T>A	NP_690043.1:p.Ser725Thr
XM_005257110.1:c.3346T>A	XP_005257167.1:p.Ser1116Thr
XM_006721737.2:c.2233T>A	XP_006721800.2:p.Ser745Thr
XM_006721737.3:c.2233T>A	XP_006721800.2:p.Ser745Thr
NM_000789.4:c.3895T>A MANE Select	NP_000780.1:p.Ser1299Thr
NM_001178057.2:c.2050T>A	NP_001171528.1:p.Ser684Thr
NM_152830.3:c.2173T>A	NP_690043.1:p.Ser725Thr
NM_001382700.1:c.3328T>A	NP_001369629.1:p.Ser1110Thr
NM_001382701.1:c.3043T>A	NP_001369630.1:p.Ser1015Thr
NM_001382702.1:c.1510T>A	NP_001369631.1:p.Ser504Thr
NR_168483.1:n.2273T>A