Canonical Allele Identifier: CA501341391

Gene: ACE

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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