Canonical Allele Identifier: CA400569141

Gene: ACE

Linked Data

• dbSNP Id: rs568401628
• MyVariant Identifiers: chr17:g.61574641C>G (hg19) ; chr17:g.63497280C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497280C>G , CM000679.2:g.63497280C>G	GRCh38
NC_000017.10:g.61574641C>G , CM000679.1:g.61574641C>G	GRCh37
NC_000017.9:g.58928373C>G	NCBI36
NG_011648.1:g.25208C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3835C>G MANE Select	ENSP00000290866.4:p.Arg1279Gly
ENST00000290863.10:c.2113C>G	ENSP00000290863.6:p.Arg705Gly
ENST00000290866.9:c.3835C>G	ENSP00000290866.4:p.Arg1279Gly
ENST00000413513.7:c.1990C>G	ENSP00000392247.3:p.Arg664Gly
ENST00000428043.5:c.*257C>G	ENSP00000397593.2:n.*257C>G
ENST00000577647.2:c.1969+295C>G	ENSP00000464149.1:n.1969+295C>G
ENST00000578839.5:c.*1590C>G	ENSP00000462110.2:n.*1590C>G
ENST00000579314.5:c.*1564C>G	ENSP00000462599.1:n.*1564C>G
NM_000789.3:c.3835C>G	NP_000780.1:p.Arg1279Gly
NM_001178057.1:c.1990C>G	NP_001171528.1:p.Arg664Gly
NM_152830.2:c.2113C>G	NP_690043.1:p.Arg705Gly
XM_005257110.1:c.3286C>G	XP_005257167.1:p.Arg1096Gly
XM_006721737.2:c.2173C>G	XP_006721800.2:p.Arg725Gly
XM_006721737.3:c.2173C>G	XP_006721800.2:p.Arg725Gly
NM_000789.4:c.3835C>G MANE Select	NP_000780.1:p.Arg1279Gly
NM_001178057.2:c.1990C>G	NP_001171528.1:p.Arg664Gly
NM_152830.3:c.2113C>G	NP_690043.1:p.Arg705Gly
NM_001382700.1:c.3268C>G	NP_001369629.1:p.Arg1090Gly
NM_001382701.1:c.2983C>G	NP_001369630.1:p.Arg995Gly
NM_001382702.1:c.1450C>G	NP_001369631.1:p.Arg484Gly
NR_168483.1:n.2213C>G