Canonical Allele Identifier: CA501341394

Gene: ACE

Linked Data

• dbSNP Id: rs1402236637
• gnomAD v2: 17-61554626-C-G
• gnomAD v3: 17-63477265-C-G
• gnomAD v4: 17-63477265-C-G
• MyVariant Identifiers: chr17:g.61554626C>G (hg19) ; chr17:g.63477265C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477265C>G , CM000679.2:g.63477265C>G	GRCh38
NC_000017.10:g.61554626C>G , CM000679.1:g.61554626C>G	GRCh37
NC_000017.9:g.58908358C>G	NCBI36
NG_011648.1:g.5193C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.171C>G MANE Select	ENSP00000290866.4:p.Ala57=
ENST00000290866.9:c.171C>G	ENSP00000290866.4:p.Ala57=
ENST00000428043.5:c.171C>G	ENSP00000397593.2:p.Ala57=
ENST00000579462.1:n.196C>G
ENST00000582678.5:c.171C>G	ENSP00000462995.1:p.Ala57=
ENST00000583336.5:n.205C>G
ENST00000584529.5:n.205C>G
NM_000789.3:c.171C>G	NP_000780.1:p.Ala57=
XM_005257110.1:c.-285C>G	XP_005257167.1:n.-285C>G
NM_000789.4:c.171C>G MANE Select	NP_000780.1:p.Ala57=
NM_001382700.1:c.-65C>G	NP_001369629.1:n.-65C>G
NM_001382701.1:c.-444C>G	NP_001369630.1:n.-444C>G