Canonical Allele Identifier: CA501341528
Gene: ACE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.61555429T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63478068T>C , CM000679.2:g.63478068T>C GRCh38
NC_000017.10:g.61555429T>C , CM000679.1:g.61555429T>C GRCh37
NC_000017.9:g.58909161T>C NCBI36
NG_011648.1:g.5996T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.387T>C MANE Select ENSP00000290866.4:p.Ser129=
ENST00000290866.9:c.387T>C ENSP00000290866.4:p.Ser129=
ENST00000428043.5:c.387T>C ENSP00000397593.2:p.Ser129=
ENST00000579462.1:n.412T>C
ENST00000580318.1:n.576T>C
ENST00000582627.1:c.387T>C ENSP00000462280.1:p.Ser129=
ENST00000582678.5:c.387T>C ENSP00000462995.1:p.Ser129=
ENST00000583336.5:n.421T>C
ENST00000584529.5:n.421T>C
NM_000789.3:c.387T>C NP_000780.1:p.Ser129=
XM_005257110.1:c.-69T>C XP_005257167.1:n.-69T>C
NM_000789.4:c.387T>C MANE Select NP_000780.1:p.Ser129=
NM_001382700.1:c.152T>C NP_001369629.1:p.Leu51Pro
NM_001382701.1:c.-228T>C NP_001369630.1:n.-228T>C