Canonical Allele Identifier: CA400538884

Gene: ACE

Linked Data

• gnomAD v4: 17-63477262-C-G
• MyVariant Identifiers: chr17:g.61554623C>G (hg19) ; chr17:g.63477262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477262C>G , CM000679.2:g.63477262C>G	GRCh38
NC_000017.10:g.61554623C>G , CM000679.1:g.61554623C>G	GRCh37
NC_000017.9:g.58908355C>G	NCBI36
NG_011648.1:g.5190C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.168C>G MANE Select	ENSP00000290866.4:p.Ser56Arg
ENST00000290866.9:c.168C>G	ENSP00000290866.4:p.Ser56Arg
ENST00000428043.5:c.168C>G	ENSP00000397593.2:p.Ser56Arg
ENST00000579462.1:n.193C>G
ENST00000582678.5:c.168C>G	ENSP00000462995.1:p.Ser56Arg
ENST00000583336.5:n.202C>G
ENST00000584529.5:n.202C>G
NM_000789.3:c.168C>G	NP_000780.1:p.Ser56Arg
XM_005257110.1:c.-288C>G	XP_005257167.1:n.-288C>G
NM_000789.4:c.168C>G MANE Select	NP_000780.1:p.Ser56Arg
NM_001382700.1:c.-68C>G	NP_001369629.1:n.-68C>G
NM_001382701.1:c.-447C>G	NP_001369630.1:n.-447C>G