Canonical Allele Identifier: CA400540683

Gene: ACE

Linked Data

• gnomAD v4: 17-63477986-A-T
• MyVariant Identifiers: chr17:g.61555347A>T (hg19) ; chr17:g.63477986A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477986A>T , CM000679.2:g.63477986A>T	GRCh38
NC_000017.10:g.61555347A>T , CM000679.1:g.61555347A>T	GRCh37
NC_000017.9:g.58909079A>T	NCBI36
NG_011648.1:g.5914A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.305A>T MANE Select	ENSP00000290866.4:p.Lys102Met
ENST00000290866.9:c.305A>T	ENSP00000290866.4:p.Lys102Met
ENST00000428043.5:c.305A>T	ENSP00000397593.2:p.Lys102Met
ENST00000579462.1:n.330A>T
ENST00000580318.1:n.494A>T
ENST00000582627.1:c.305A>T	ENSP00000462280.1:p.Lys102Met
ENST00000582678.5:c.305A>T	ENSP00000462995.1:p.Lys102Met
ENST00000583336.5:n.339A>T
ENST00000584529.5:n.339A>T
NM_000789.3:c.305A>T	NP_000780.1:p.Lys102Met
XM_005257110.1:c.-151A>T	XP_005257167.1:n.-151A>T
NM_000789.4:c.305A>T MANE Select	NP_000780.1:p.Lys102Met
NM_001382700.1:c.70A>T	NP_001369629.1:p.Arg24Trp
NM_001382701.1:c.-310A>T	NP_001369630.1:n.-310A>T