Canonical Allele Identifier: CA400540850

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61555427T>G (hg19) ; chr17:g.63478066T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478066T>G , CM000679.2:g.63478066T>G	GRCh38
NC_000017.10:g.61555427T>G , CM000679.1:g.61555427T>G	GRCh37
NC_000017.9:g.58909159T>G	NCBI36
NG_011648.1:g.5994T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.385T>G MANE Select	ENSP00000290866.4:p.Ser129Ala
ENST00000290866.9:c.385T>G	ENSP00000290866.4:p.Ser129Ala
ENST00000428043.5:c.385T>G	ENSP00000397593.2:p.Ser129Ala
ENST00000579462.1:n.410T>G
ENST00000580318.1:n.574T>G
ENST00000582627.1:c.385T>G	ENSP00000462280.1:p.Ser129Ala
ENST00000582678.5:c.385T>G	ENSP00000462995.1:p.Ser129Ala
ENST00000583336.5:n.419T>G
ENST00000584529.5:n.419T>G
NM_000789.3:c.385T>G	NP_000780.1:p.Ser129Ala
XM_005257110.1:c.-71T>G	XP_005257167.1:n.-71T>G
NM_000789.4:c.385T>G MANE Select	NP_000780.1:p.Ser129Ala
NM_001382700.1:c.150T>G	NP_001369629.1:p.Ala50=
NM_001382701.1:c.-230T>G	NP_001369630.1:n.-230T>G