Canonical Allele Identifier: CA400539340

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61554933C>G (hg19) ; chr17:g.63477572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477572C>G , CM000679.2:g.63477572C>G	GRCh38
NC_000017.10:g.61554933C>G , CM000679.1:g.61554933C>G	GRCh37
NC_000017.9:g.58908665C>G	NCBI36
NG_011648.1:g.5500C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+229C>G MANE Select	ENSP00000290866.4:n.249+229C>G
ENST00000290866.9:c.249+229C>G	ENSP00000290866.4:n.249+229C>G
ENST00000428043.5:c.249+229C>G	ENSP00000397593.2:n.249+229C>G
ENST00000579462.1:n.274+229C>G
ENST00000580318.1:n.80C>G
ENST00000582627.1:c.31C>G	ENSP00000462280.1:p.Pro11Ala
ENST00000582678.5:c.249+229C>G	ENSP00000462995.1:n.249+229C>G
ENST00000583336.5:n.283+229C>G
ENST00000584529.5:n.283+229C>G
NM_000789.3:c.249+229C>G	NP_000780.1:n.249+229C>G
XM_005257110.1:c.-207+229C>G	XP_005257167.1:n.-207+229C>G
NM_000789.4:c.249+229C>G MANE Select	NP_000780.1:n.249+229C>G
NM_001382700.1:c.14+229C>G	NP_001369629.1:n.14+229C>G
NM_001382701.1:c.-366+229C>G	NP_001369630.1:n.-366+229C>G