Canonical Allele Identifier: CA400566808

Gene: ACE

Linked Data

• gnomAD v4: 17-63496843-G-T
• MyVariant Identifiers: chr17:g.61574204G>T (hg19) ; chr17:g.63496843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496843G>T , CM000679.2:g.63496843G>T	GRCh38
NC_000017.10:g.61574204G>T , CM000679.1:g.61574204G>T	GRCh37
NC_000017.9:g.58927936G>T	NCBI36
NG_011648.1:g.24771G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3549G>T MANE Select	ENSP00000290866.4:p.Met1183Ile
ENST00000290863.10:c.1827G>T	ENSP00000290863.6:p.Met609Ile
ENST00000290866.9:c.3549G>T	ENSP00000290866.4:p.Met1183Ile
ENST00000413513.7:c.1704G>T	ENSP00000392247.3:p.Met568Ile
ENST00000428043.5:c.3549G>T	ENSP00000397593.2:p.Met1183Ile
ENST00000577418.5:n.559G>T
ENST00000577647.2:c.1827G>T	ENSP00000464149.1:p.Met609Ile
ENST00000578839.5:c.*1304G>T	ENSP00000462110.2:n.*1304G>T
ENST00000579314.5:c.*1278G>T	ENSP00000462599.1:n.*1278G>T
ENST00000579409.1:c.236G>T
ENST00000582244.1:n.423G>T
NM_000789.3:c.3549G>T	NP_000780.1:p.Met1183Ile
NM_001178057.1:c.1704G>T	NP_001171528.1:p.Met568Ile
NM_152830.2:c.1827G>T	NP_690043.1:p.Met609Ile
XM_005257110.1:c.3000G>T	XP_005257167.1:p.Met1000Ile
XM_006721737.2:c.1887G>T	XP_006721800.2:p.Met629Ile
XM_006721737.3:c.1887G>T	XP_006721800.2:p.Met629Ile
NM_000789.4:c.3549G>T MANE Select	NP_000780.1:p.Met1183Ile
NM_001178057.2:c.1704G>T	NP_001171528.1:p.Met568Ile
NM_152830.3:c.1827G>T	NP_690043.1:p.Met609Ile
NM_001382700.1:c.2982G>T	NP_001369629.1:p.Met994Ile
NM_001382701.1:c.2697G>T	NP_001369630.1:p.Met899Ile
NM_001382702.1:c.1164G>T	NP_001369631.1:p.Met388Ile
NR_168483.1:n.1927G>T