Canonical Allele Identifier: CA773988993

Gene: ACE

Linked Data

• dbSNP Id: rs1243493961
• gnomAD v3: 17-63477685-C-T
• gnomAD v4: 17-63477685-C-T
• MyVariant Identifiers: chr17:g.61555046C>T (hg19) ; chr17:g.63477685C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477685C>T , CM000679.2:g.63477685C>T	GRCh38
NC_000017.10:g.61555046C>T , CM000679.1:g.61555046C>T	GRCh37
NC_000017.9:g.58908778C>T	NCBI36
NG_011648.1:g.5613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.250-246C>T MANE Select	ENSP00000290866.4:n.250-246C>T
ENST00000290866.9:c.250-246C>T	ENSP00000290866.4:n.250-246C>T
ENST00000428043.5:c.250-246C>T	ENSP00000397593.2:n.250-246C>T
ENST00000579462.1:n.275-246C>T
ENST00000580318.1:n.193C>T
ENST00000582627.1:c.144C>T	ENSP00000462280.1:p.Ile48=
ENST00000582678.5:c.250-246C>T	ENSP00000462995.1:n.250-246C>T
ENST00000583336.5:n.284-246C>T
ENST00000584529.5:n.284-246C>T
NM_000789.3:c.250-246C>T	NP_000780.1:n.250-246C>T
XM_005257110.1:c.-206-246C>T	XP_005257167.1:n.-206-246C>T
NM_000789.4:c.250-246C>T MANE Select	NP_000780.1:n.250-246C>T
NM_001382700.1:c.15-246C>T	NP_001369629.1:n.15-246C>T
NM_001382701.1:c.-365-246C>T	NP_001369630.1:n.-365-246C>T