Canonical Allele Identifier: CA400539247

Gene: ACE

Linked Data

• gnomAD v4: 17-63477543-T-G
• MyVariant Identifiers: chr17:g.61554904T>G (hg19) ; chr17:g.63477543T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477543T>G , CM000679.2:g.63477543T>G	GRCh38
NC_000017.10:g.61554904T>G , CM000679.1:g.61554904T>G	GRCh37
NC_000017.9:g.58908636T>G	NCBI36
NG_011648.1:g.5471T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+200T>G MANE Select	ENSP00000290866.4:n.249+200T>G
ENST00000290866.9:c.249+200T>G	ENSP00000290866.4:n.249+200T>G
ENST00000428043.5:c.249+200T>G	ENSP00000397593.2:n.249+200T>G
ENST00000579462.1:n.274+200T>G
ENST00000580318.1:n.51T>G
ENST00000582627.1:c.2T>G	ENSP00000462280.1:p.Met1Arg
ENST00000582678.5:c.249+200T>G	ENSP00000462995.1:n.249+200T>G
ENST00000583336.5:n.283+200T>G
ENST00000584529.5:n.283+200T>G
NM_000789.3:c.249+200T>G	NP_000780.1:n.249+200T>G
XM_005257110.1:c.-207+200T>G	XP_005257167.1:n.-207+200T>G
NM_000789.4:c.249+200T>G MANE Select	NP_000780.1:n.249+200T>G
NM_001382700.1:c.14+200T>G	NP_001369629.1:n.14+200T>G
NM_001382701.1:c.-366+200T>G	NP_001369630.1:n.-366+200T>G