Canonical Allele Identifier: CA400568407

Gene: ACE

Linked Data

• gnomAD v4: 17-63497164-G-A
• MyVariant Identifiers: chr17:g.61574525G>A (hg19) ; chr17:g.63497164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497164G>A , CM000679.2:g.63497164G>A	GRCh38
NC_000017.10:g.61574525G>A , CM000679.1:g.61574525G>A	GRCh37
NC_000017.9:g.58928257G>A	NCBI36
NG_011648.1:g.25092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3719G>A MANE Select	ENSP00000290866.4:p.Ser1240Asn
ENST00000290863.10:c.1997G>A	ENSP00000290863.6:p.Ser666Asn
ENST00000290866.9:c.3719G>A	ENSP00000290866.4:p.Ser1240Asn
ENST00000413513.7:c.1874G>A	ENSP00000392247.3:p.Ser625Asn
ENST00000428043.5:c.*141G>A	ENSP00000397593.2:n.*141G>A
ENST00000577647.2:c.1969+179G>A	ENSP00000464149.1:n.1969+179G>A
ENST00000578839.5:c.*1474G>A	ENSP00000462110.2:n.*1474G>A
ENST00000579314.5:c.*1448G>A	ENSP00000462599.1:n.*1448G>A
NM_000789.3:c.3719G>A	NP_000780.1:p.Ser1240Asn
NM_001178057.1:c.1874G>A	NP_001171528.1:p.Ser625Asn
NM_152830.2:c.1997G>A	NP_690043.1:p.Ser666Asn
XM_005257110.1:c.3170G>A	XP_005257167.1:p.Ser1057Asn
XM_006721737.2:c.2057G>A	XP_006721800.2:p.Ser686Asn
XM_006721737.3:c.2057G>A	XP_006721800.2:p.Ser686Asn
NM_000789.4:c.3719G>A MANE Select	NP_000780.1:p.Ser1240Asn
NM_001178057.2:c.1874G>A	NP_001171528.1:p.Ser625Asn
NM_152830.3:c.1997G>A	NP_690043.1:p.Ser666Asn
NM_001382700.1:c.3152G>A	NP_001369629.1:p.Ser1051Asn
NM_001382701.1:c.2867G>A	NP_001369630.1:p.Ser956Asn
NM_001382702.1:c.1334G>A	NP_001369631.1:p.Ser445Asn
NR_168483.1:n.2097G>A