Canonical Allele Identifier: CA8700589

Gene: ACE

Linked Data

• dbSNP Id: rs762495578
• ExAC: 17:61574335 C / A
• gnomAD v2: 17-61574335-C-A
• gnomAD v4: 17-63496974-C-A
• MyVariant Identifiers: chr17:g.61574335C>A (hg19) ; chr17:g.63496974C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496974C>A , CM000679.2:g.63496974C>A	GRCh38
NC_000017.10:g.61574335C>A , CM000679.1:g.61574335C>A	GRCh37
NC_000017.9:g.58928067C>A	NCBI36
NG_011648.1:g.24902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3680C>A MANE Select	ENSP00000290866.4:p.Thr1227Lys
ENST00000290863.10:c.1958C>A	ENSP00000290863.6:p.Thr653Lys
ENST00000290866.9:c.3680C>A	ENSP00000290866.4:p.Thr1227Lys
ENST00000413513.7:c.1835C>A	ENSP00000392247.3:p.Thr612Lys
ENST00000428043.5:c.3680C>A	ENSP00000397593.2:p.Thr1227Lys
ENST00000577418.5:n.690C>A
ENST00000577647.2:c.1958C>A	ENSP00000464149.1:p.Thr653Lys
ENST00000578839.5:c.*1435C>A	ENSP00000462110.2:n.*1435C>A
ENST00000579314.5:c.*1409C>A	ENSP00000462599.1:n.*1409C>A
ENST00000579409.1:c.367C>A
ENST00000582244.1:n.554C>A
NM_000789.3:c.3680C>A	NP_000780.1:p.Thr1227Lys
NM_001178057.1:c.1835C>A	NP_001171528.1:p.Thr612Lys
NM_152830.2:c.1958C>A	NP_690043.1:p.Thr653Lys
XM_005257110.1:c.3131C>A	XP_005257167.1:p.Thr1044Lys
XM_006721737.2:c.2018C>A	XP_006721800.2:p.Thr673Lys
XM_006721737.3:c.2018C>A	XP_006721800.2:p.Thr673Lys
NM_000789.4:c.3680C>A MANE Select	NP_000780.1:p.Thr1227Lys
NM_001178057.2:c.1835C>A	NP_001171528.1:p.Thr612Lys
NM_152830.3:c.1958C>A	NP_690043.1:p.Thr653Lys
NM_001382700.1:c.3113C>A	NP_001369629.1:p.Thr1038Lys
NM_001382701.1:c.2828C>A	NP_001369630.1:p.Thr943Lys
NM_001382702.1:c.1295C>A	NP_001369631.1:p.Thr432Lys
NR_168483.1:n.2058C>A