Canonical Allele Identifier: CA400567524

Gene: ACE

Linked Data

• dbSNP Id: rs574717474
• gnomAD v4: 17-63496929-A-G
• MyVariant Identifiers: chr17:g.61574290A>G (hg19) ; chr17:g.63496929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496929A>G , CM000679.2:g.63496929A>G	GRCh38
NC_000017.10:g.61574290A>G , CM000679.1:g.61574290A>G	GRCh37
NC_000017.9:g.58928022A>G	NCBI36
NG_011648.1:g.24857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3635A>G MANE Select	ENSP00000290866.4:p.Asn1212Ser
ENST00000290863.10:c.1913A>G	ENSP00000290863.6:p.Asn638Ser
ENST00000290866.9:c.3635A>G	ENSP00000290866.4:p.Asn1212Ser
ENST00000413513.7:c.1790A>G	ENSP00000392247.3:p.Asn597Ser
ENST00000428043.5:c.3635A>G	ENSP00000397593.2:p.Asn1212Ser
ENST00000577418.5:n.645A>G
ENST00000577647.2:c.1913A>G	ENSP00000464149.1:p.Asn638Ser
ENST00000578839.5:c.*1390A>G	ENSP00000462110.2:n.*1390A>G
ENST00000579314.5:c.*1364A>G	ENSP00000462599.1:n.*1364A>G
ENST00000579409.1:c.322A>G
ENST00000582244.1:n.509A>G
NM_000789.3:c.3635A>G	NP_000780.1:p.Asn1212Ser
NM_001178057.1:c.1790A>G	NP_001171528.1:p.Asn597Ser
NM_152830.2:c.1913A>G	NP_690043.1:p.Asn638Ser
XM_005257110.1:c.3086A>G	XP_005257167.1:p.Asn1029Ser
XM_006721737.2:c.1973A>G	XP_006721800.2:p.Asn658Ser
XM_006721737.3:c.1973A>G	XP_006721800.2:p.Asn658Ser
NM_000789.4:c.3635A>G MANE Select	NP_000780.1:p.Asn1212Ser
NM_001178057.2:c.1790A>G	NP_001171528.1:p.Asn597Ser
NM_152830.3:c.1913A>G	NP_690043.1:p.Asn638Ser
NM_001382700.1:c.3068A>G	NP_001369629.1:p.Asn1023Ser
NM_001382701.1:c.2783A>G	NP_001369630.1:p.Asn928Ser
NM_001382702.1:c.1250A>G	NP_001369631.1:p.Asn417Ser
NR_168483.1:n.2013A>G