Canonical Allele Identifier: CA400540276

Gene: ACE

Linked Data

• dbSNP Id: rs2147525027
• gnomAD v4: 17-63477742-T-G
• MyVariant Identifiers: chr17:g.61555103T>G (hg19) ; chr17:g.63477742T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477742T>G , CM000679.2:g.63477742T>G	GRCh38
NC_000017.10:g.61555103T>G , CM000679.1:g.61555103T>G	GRCh37
NC_000017.9:g.58908835T>G	NCBI36
NG_011648.1:g.5670T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.250-189T>G MANE Select	ENSP00000290866.4:n.250-189T>G
ENST00000290866.9:c.250-189T>G	ENSP00000290866.4:n.250-189T>G
ENST00000428043.5:c.250-189T>G	ENSP00000397593.2:n.250-189T>G
ENST00000579462.1:n.275-189T>G
ENST00000580318.1:n.250T>G
ENST00000582627.1:c.201T>G	ENSP00000462280.1:p.His67Gln
ENST00000582678.5:c.250-189T>G	ENSP00000462995.1:n.250-189T>G
ENST00000583336.5:n.284-189T>G
ENST00000584529.5:n.284-189T>G
NM_000789.3:c.250-189T>G	NP_000780.1:n.250-189T>G
XM_005257110.1:c.-206-189T>G	XP_005257167.1:n.-206-189T>G
NM_000789.4:c.250-189T>G MANE Select	NP_000780.1:n.250-189T>G
NM_001382700.1:c.15-189T>G	NP_001369629.1:n.15-189T>G
NM_001382701.1:c.-365-189T>G	NP_001369630.1:n.-365-189T>G