Canonical Allele Identifier: CA292890753

Gene: ACE

Linked Data

• ClinVar Variation Id: 889719
• ClinVar RCV Id: RCV001123805
• dbSNP Id: rs752259645
• gnomAD v2: 17-61575304-T-A
• gnomAD v3: 17-63497943-T-A
• gnomAD v4: 17-63497943-T-A
• MyVariant Identifiers: chr17:g.61575304T>A (hg19) ; chr17:g.63497943T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497943T>A , CM000679.2:g.63497943T>A	GRCh38
NC_000017.10:g.61575304T>A , CM000679.1:g.61575304T>A	GRCh37
NC_000017.9:g.58929036T>A	NCBI36
NG_011648.1:g.25871T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.*577T>A MANE Select	ENSP00000290866.4:n.*577T>A
ENST00000290866.9:c.*577T>A	ENSP00000290866.4:n.*577T>A
ENST00000428043.5:c.*920T>A	ENSP00000397593.2:n.*920T>A
ENST00000577647.2:c.1969+958T>A	ENSP00000464149.1:n.1969+958T>A
NM_000789.3:c.*577T>A	NP_000780.1:n.*577T>A
NM_001178057.1:c.*577T>A	NP_001171528.1:n.*577T>A
NM_152830.2:c.*577T>A	NP_690043.1:n.*577T>A
XM_005257110.1:c.*577T>A	XP_005257167.1:n.*577T>A
XM_006721737.2:c.*577T>A	XP_006721800.2:n.*577T>A
NM_000789.4:c.*577T>A MANE Select	NP_000780.1:n.*577T>A
NM_001178057.2:c.*577T>A	NP_001171528.1:n.*577T>A
NM_152830.3:c.*577T>A	NP_690043.1:n.*577T>A
NM_001382700.1:c.*577T>A	NP_001369629.1:n.*577T>A
NM_001382701.1:c.*577T>A	NP_001369630.1:n.*577T>A
NM_001382702.1:c.*577T>A	NP_001369631.1:n.*577T>A
NR_168483.1:n.2876T>A