Canonical Allele Identifier: CA2269942595

Gene: ACE

Linked Data

• dbSNP Id: rs2049726037
• gnomAD v4: 17-63482462-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482462C>T , CM000679.2:g.63482462C>T	GRCh38
NC_000017.10:g.61559823C>T , CM000679.1:g.61559823C>T	GRCh37
NC_000017.9:g.58913555C>T	NCBI36
NG_011648.1:g.10390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1119-4C>T MANE Select	ENSP00000290866.4:n.1119-4C>T
ENST00000290866.9:c.1119-4C>T	ENSP00000290866.4:n.1119-4C>T
ENST00000428043.5:c.1119-4C>T	ENSP00000397593.2:n.1119-4C>T
ENST00000582678.5:c.*518-4C>T	ENSP00000462995.1:n.*518-4C>T
ENST00000584529.5:n.1153-4C>T
NM_000789.3:c.1119-4C>T	NP_000780.1:n.1119-4C>T
XM_005257110.1:c.570-4C>T	XP_005257167.1:n.570-4C>T
NM_000789.4:c.1119-4C>T MANE Select	NP_000780.1:n.1119-4C>T
NM_001382700.1:c.548C>T	NP_001369629.1:p.Pro183Leu
NM_001382701.1:c.267-4C>T	NP_001369630.1:n.267-4C>T