Canonical Allele Identifier: CA400540851

Gene: ACE

Linked Data

• gnomAD v4: 17-63478067-C-A
• COSMIC: COSM6386081 ; COSM6386082
• MyVariant Identifiers: chr17:g.61555428C>A (hg19) ; chr17:g.63478067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478067C>A , CM000679.2:g.63478067C>A	GRCh38
NC_000017.10:g.61555428C>A , CM000679.1:g.61555428C>A	GRCh37
NC_000017.9:g.58909160C>A	NCBI36
NG_011648.1:g.5995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.386C>A MANE Select	ENSP00000290866.4:p.Ser129Tyr
ENST00000290866.9:c.386C>A	ENSP00000290866.4:p.Ser129Tyr
ENST00000428043.5:c.386C>A	ENSP00000397593.2:p.Ser129Tyr
ENST00000579462.1:n.411C>A
ENST00000580318.1:n.575C>A
ENST00000582627.1:c.386C>A	ENSP00000462280.1:p.Ser129Tyr
ENST00000582678.5:c.386C>A	ENSP00000462995.1:p.Ser129Tyr
ENST00000583336.5:n.420C>A
ENST00000584529.5:n.420C>A
NM_000789.3:c.386C>A	NP_000780.1:p.Ser129Tyr
XM_005257110.1:c.-70C>A	XP_005257167.1:n.-70C>A
NM_000789.4:c.386C>A MANE Select	NP_000780.1:p.Ser129Tyr
NM_001382700.1:c.151C>A	NP_001369629.1:p.Leu51Met
NM_001382701.1:c.-229C>A	NP_001369630.1:n.-229C>A