Canonical Allele Identifier: CA400568602

Gene: ACE

Linked Data

• dbSNP Id: rs1193002337
• gnomAD v2: 17-61574554-C-G
• gnomAD v4: 17-63497193-C-G
• MyVariant Identifiers: chr17:g.61574554C>G (hg19) ; chr17:g.63497193C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497193C>G , CM000679.2:g.63497193C>G	GRCh38
NC_000017.10:g.61574554C>G , CM000679.1:g.61574554C>G	GRCh37
NC_000017.9:g.58928286C>G	NCBI36
NG_011648.1:g.25121C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3748C>G MANE Select	ENSP00000290866.4:p.Leu1250Val
ENST00000290863.10:c.2026C>G	ENSP00000290863.6:p.Leu676Val
ENST00000290866.9:c.3748C>G	ENSP00000290866.4:p.Leu1250Val
ENST00000413513.7:c.1903C>G	ENSP00000392247.3:p.Leu635Val
ENST00000428043.5:c.*170C>G	ENSP00000397593.2:n.*170C>G
ENST00000577647.2:c.1969+208C>G	ENSP00000464149.1:n.1969+208C>G
ENST00000578839.5:c.*1503C>G	ENSP00000462110.2:n.*1503C>G
ENST00000579314.5:c.*1477C>G	ENSP00000462599.1:n.*1477C>G
NM_000789.3:c.3748C>G	NP_000780.1:p.Leu1250Val
NM_001178057.1:c.1903C>G	NP_001171528.1:p.Leu635Val
NM_152830.2:c.2026C>G	NP_690043.1:p.Leu676Val
XM_005257110.1:c.3199C>G	XP_005257167.1:p.Leu1067Val
XM_006721737.2:c.2086C>G	XP_006721800.2:p.Leu696Val
XM_006721737.3:c.2086C>G	XP_006721800.2:p.Leu696Val
NM_000789.4:c.3748C>G MANE Select	NP_000780.1:p.Leu1250Val
NM_001178057.2:c.1903C>G	NP_001171528.1:p.Leu635Val
NM_152830.3:c.2026C>G	NP_690043.1:p.Leu676Val
NM_001382700.1:c.3181C>G	NP_001369629.1:p.Leu1061Val
NM_001382701.1:c.2896C>G	NP_001369630.1:p.Leu966Val
NM_001382702.1:c.1363C>G	NP_001369631.1:p.Leu455Val
NR_168483.1:n.2126C>G