Canonical Allele Identifier: CA501342369

Gene: ACE

Linked Data

• dbSNP Id: rs2030774036
• MyVariant Identifiers: chr17:g.61574243C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496882C>A , CM000679.2:g.63496882C>A	GRCh38
NC_000017.10:g.61574243C>A , CM000679.1:g.61574243C>A	GRCh37
NC_000017.9:g.58927975C>A	NCBI36
NG_011648.1:g.24810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3588C>A MANE Select	ENSP00000290866.4:p.Ala1196=
ENST00000290863.10:c.1866C>A	ENSP00000290863.6:p.Ala622=
ENST00000290866.9:c.3588C>A	ENSP00000290866.4:p.Ala1196=
ENST00000413513.7:c.1743C>A	ENSP00000392247.3:p.Ala581=
ENST00000428043.5:c.3588C>A	ENSP00000397593.2:p.Ala1196=
ENST00000577418.5:n.598C>A
ENST00000577647.2:c.1866C>A	ENSP00000464149.1:p.Ala622=
ENST00000578839.5:c.*1343C>A	ENSP00000462110.2:n.*1343C>A
ENST00000579314.5:c.*1317C>A	ENSP00000462599.1:n.*1317C>A
ENST00000579409.1:c.275C>A
ENST00000582244.1:n.462C>A
NM_000789.3:c.3588C>A	NP_000780.1:p.Ala1196=
NM_001178057.1:c.1743C>A	NP_001171528.1:p.Ala581=
NM_152830.2:c.1866C>A	NP_690043.1:p.Ala622=
XM_005257110.1:c.3039C>A	XP_005257167.1:p.Ala1013=
XM_006721737.2:c.1926C>A	XP_006721800.2:p.Ala642=
XM_006721737.3:c.1926C>A	XP_006721800.2:p.Ala642=
NM_000789.4:c.3588C>A MANE Select	NP_000780.1:p.Ala1196=
NM_001178057.2:c.1743C>A	NP_001171528.1:p.Ala581=
NM_152830.3:c.1866C>A	NP_690043.1:p.Ala622=
NM_001382700.1:c.3021C>A	NP_001369629.1:p.Ala1007=
NM_001382701.1:c.2736C>A	NP_001369630.1:p.Ala912=
NM_001382702.1:c.1203C>A	NP_001369631.1:p.Ala401=
NR_168483.1:n.1966C>A