Canonical Allele Identifier: CA501341389

Gene: ACE

Linked Data

• gnomAD v4: 17-63477259-C-A
• MyVariant Identifiers: chr17:g.61554620C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477259C>A , CM000679.2:g.63477259C>A	GRCh38
NC_000017.10:g.61554620C>A , CM000679.1:g.61554620C>A	GRCh37
NC_000017.9:g.58908352C>A	NCBI36
NG_011648.1:g.5187C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.165C>A MANE Select	ENSP00000290866.4:p.Ser55=
ENST00000290866.9:c.165C>A	ENSP00000290866.4:p.Ser55=
ENST00000428043.5:c.165C>A	ENSP00000397593.2:p.Ser55=
ENST00000579462.1:n.190C>A
ENST00000582678.5:c.165C>A	ENSP00000462995.1:p.Ser55=
ENST00000583336.5:n.199C>A
ENST00000584529.5:n.199C>A
NM_000789.3:c.165C>A	NP_000780.1:p.Ser55=
XM_005257110.1:c.-291C>A	XP_005257167.1:n.-291C>A
NM_000789.4:c.165C>A MANE Select	NP_000780.1:p.Ser55=
NM_001382700.1:c.-71C>A	NP_001369629.1:n.-71C>A
NM_001382701.1:c.-450C>A	NP_001369630.1:n.-450C>A