Canonical Allele Identifier: CA8699168

Gene: ACE

Linked Data

• ClinVar Variation Id: 256810
• ClinVar RCV Id: RCV000246157 ; RCV000260632 ; RCV001722295
• dbSNP Id: rs4300
• ExAC: 17:61557286 C / T
• gnomAD v2: 17-61557286-C-T
• gnomAD v3: 17-63479925-C-T
• gnomAD v4: 17-63479925-C-T
• MyVariant Identifiers: chr17:g.61557286C>T (hg19) ; chr17:g.63479925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63479925C>T , CM000679.2:g.63479925C>T	GRCh38
NC_000017.10:g.61557286C>T , CM000679.1:g.61557286C>T	GRCh37
NC_000017.9:g.58911018C>T	NCBI36
NG_011648.1:g.7853C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.655+13C>T MANE Select	ENSP00000290866.4:n.655+13C>T
ENST00000290866.9:c.655+13C>T	ENSP00000290866.4:n.655+13C>T
ENST00000428043.5:c.655+13C>T	ENSP00000397593.2:n.655+13C>T
ENST00000580318.1:n.844+13C>T
ENST00000582627.1:c.655+13C>T	ENSP00000462280.1:n.655+13C>T
ENST00000582678.5:c.*54+13C>T	ENSP00000462995.1:n.*54+13C>T
ENST00000584529.5:n.689+13C>T
NM_000789.3:c.655+13C>T	NP_000780.1:n.655+13C>T
XM_005257110.1:c.106+13C>T	XP_005257167.1:n.106+13C>T
NM_000789.4:c.655+13C>T MANE Select	NP_000780.1:n.655+13C>T
NM_001382700.1:c.183-412C>T	NP_001369629.1:n.183-412C>T
NM_001382701.1:c.-197-412C>T	NP_001369630.1:n.-197-412C>T