Canonical Allele Identifier: CA292877738

Gene: ACE

Linked Data

• dbSNP Id: rs935477509
• gnomAD v3: 17-63483702-C-T
• gnomAD v4: 17-63483702-C-T
• MyVariant Identifiers: chr17:g.61561063C>T (hg19) ; chr17:g.63483702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483702C>T , CM000679.2:g.63483702C>T	GRCh38
NC_000017.10:g.61561063C>T , CM000679.1:g.61561063C>T	GRCh37
NC_000017.9:g.58914795C>T	NCBI36
NG_011648.1:g.11630C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1586+144C>T MANE Select	ENSP00000290866.4:n.1586+144C>T
ENST00000290866.9:c.1586+144C>T	ENSP00000290866.4:n.1586+144C>T
ENST00000428043.5:c.1586+144C>T	ENSP00000397593.2:n.1586+144C>T
ENST00000582678.5:c.*985+144C>T	ENSP00000462995.1:n.*985+144C>T
NM_000789.3:c.1586+144C>T	NP_000780.1:n.1586+144C>T
XM_005257110.1:c.1037+144C>T	XP_005257167.1:n.1037+144C>T
NM_000789.4:c.1586+144C>T MANE Select	NP_000780.1:n.1586+144C>T
NM_001382700.1:c.1019+144C>T	NP_001369629.1:n.1019+144C>T
NM_001382701.1:c.734+144C>T	NP_001369630.1:n.734+144C>T