Canonical Allele Identifier: CA10646403

Gene: ACE

Linked Data

• ClinVar Variation Id: 324436
• ClinVar RCV Id: RCV000370114
• dbSNP Id: rs886053231
• MyVariant Identifiers: chr17:g.61575482T>G (hg19) ; chr17:g.63498121T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498121T>G , CM000679.2:g.63498121T>G	GRCh38
NC_000017.10:g.61575482T>G , CM000679.1:g.61575482T>G	GRCh37
NC_000017.9:g.58929214T>G	NCBI36
NG_011648.1:g.26049T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.*755T>G MANE Select	ENSP00000290866.4:n.*755T>G
ENST00000290866.9:c.*755T>G	ENSP00000290866.4:n.*755T>G
ENST00000428043.5:c.*1098T>G	ENSP00000397593.2:n.*1098T>G
ENST00000577647.2:c.1969+1136T>G	ENSP00000464149.1:n.1969+1136T>G
NM_000789.3:c.*755T>G	NP_000780.1:n.*755T>G
NM_001178057.1:c.*755T>G	NP_001171528.1:n.*755T>G
NM_152830.2:c.*755T>G	NP_690043.1:n.*755T>G
XM_005257110.1:c.*755T>G	XP_005257167.1:n.*755T>G
XM_006721737.2:c.*755T>G	XP_006721800.2:n.*755T>G
NM_000789.4:c.*755T>G MANE Select	NP_000780.1:n.*755T>G
NM_001178057.2:c.*755T>G	NP_001171528.1:n.*755T>G
NM_152830.3:c.*755T>G	NP_690043.1:n.*755T>G
NM_001382700.1:c.*755T>G	NP_001369629.1:n.*755T>G
NM_001382701.1:c.*755T>G	NP_001369630.1:n.*755T>G
NM_001382702.1:c.*755T>G	NP_001369631.1:n.*755T>G
NR_168483.1:n.3054T>G