Canonical Allele Identifier: CA501341630

Gene: ACE

Linked Data

• gnomAD v4: 17-63482502-C-T
• COSMIC: COSM5387008
• MyVariant Identifiers: chr17:g.61559863C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482502C>T , CM000679.2:g.63482502C>T	GRCh38
NC_000017.10:g.61559863C>T , CM000679.1:g.61559863C>T	GRCh37
NC_000017.9:g.58913595C>T	NCBI36
NG_011648.1:g.10430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1155C>T MANE Select	ENSP00000290866.4:p.Leu385=
ENST00000290866.9:c.1155C>T	ENSP00000290866.4:p.Leu385=
ENST00000428043.5:c.1155C>T	ENSP00000397593.2:p.Leu385=
ENST00000582678.5:c.*554C>T	ENSP00000462995.1:n.*554C>T
ENST00000584529.5:n.1189C>T
NM_000789.3:c.1155C>T	NP_000780.1:p.Leu385=
XM_005257110.1:c.606C>T	XP_005257167.1:p.Leu202=
NM_000789.4:c.1155C>T MANE Select	NP_000780.1:p.Leu385=
NM_001382700.1:c.588C>T	NP_001369629.1:p.Leu196=
NM_001382701.1:c.303C>T	NP_001369630.1:p.Leu101=