Canonical Allele Identifier: CA8700674

Gene: ACE

Linked Data

• dbSNP Id: rs568401628
• ExAC: 17:61574641 C / T
• gnomAD v2: 17-61574641-C-T
• gnomAD v3: 17-63497280-C-T
• gnomAD v4: 17-63497280-C-T
• MyVariant Identifiers: chr17:g.61574641C>T (hg19) ; chr17:g.63497280C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3835C>T MANE Select	ENSP00000290866.4:p.Arg1279Trp
ENST00000290863.10:c.2113C>T	ENSP00000290863.6:p.Arg705Trp
ENST00000290866.9:c.3835C>T	ENSP00000290866.4:p.Arg1279Trp
ENST00000413513.7:c.1990C>T	ENSP00000392247.3:p.Arg664Trp
ENST00000428043.5:c.*257C>T	ENSP00000397593.2:n.*257C>T
ENST00000577647.2:c.1969+295C>T	ENSP00000464149.1:n.1969+295C>T
ENST00000578839.5:c.*1590C>T	ENSP00000462110.2:n.*1590C>T
ENST00000579314.5:c.*1564C>T	ENSP00000462599.1:n.*1564C>T
NM_000789.3:c.3835C>T	NP_000780.1:p.Arg1279Trp
NM_001178057.1:c.1990C>T	NP_001171528.1:p.Arg664Trp
NM_152830.2:c.2113C>T	NP_690043.1:p.Arg705Trp
XM_005257110.1:c.3286C>T	XP_005257167.1:p.Arg1096Trp
XM_006721737.2:c.2173C>T	XP_006721800.2:p.Arg725Trp
XM_006721737.3:c.2173C>T	XP_006721800.2:p.Arg725Trp
NM_000789.4:c.3835C>T MANE Select	NP_000780.1:p.Arg1279Trp
NM_001178057.2:c.1990C>T	NP_001171528.1:p.Arg664Trp
NM_152830.3:c.2113C>T	NP_690043.1:p.Arg705Trp
NM_001382700.1:c.3268C>T	NP_001369629.1:p.Arg1090Trp
NM_001382701.1:c.2983C>T	NP_001369630.1:p.Arg995Trp
NM_001382702.1:c.1450C>T	NP_001369631.1:p.Arg484Trp
NR_168483.1:n.2213C>T