Canonical Allele Identifier: CA501187568

Gene: ACE

Linked Data

• gnomAD v4: 17-63488778-T-C
• MyVariant Identifiers: chr17:g.61566139T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488778T>C , CM000679.2:g.63488778T>C	GRCh38
NC_000017.10:g.61566139T>C , CM000679.1:g.61566139T>C	GRCh37
NC_000017.9:g.58919871T>C	NCBI36
NG_011648.1:g.16706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2436T>C MANE Select	ENSP00000290866.4:p.Ala812=
ENST00000290863.10:c.714T>C	ENSP00000290863.6:p.Ala238=
ENST00000290866.9:c.2436T>C	ENSP00000290866.4:p.Ala812=
ENST00000413513.7:c.714T>C	ENSP00000392247.3:p.Ala238=
ENST00000428043.5:c.2436T>C	ENSP00000397593.2:p.Ala812=
ENST00000577647.2:c.714T>C	ENSP00000464149.1:p.Ala238=
ENST00000578839.5:c.*506T>C	ENSP00000462110.2:n.*506T>C
ENST00000579204.1:c.695T>C	ENSP00000464629.1:n.695T>C
ENST00000579314.5:c.*165T>C	ENSP00000462599.1:n.*165T>C
ENST00000582005.5:c.*356T>C	ENSP00000462002.1:n.*356T>C
ENST00000582761.1:c.204T>C	ENSP00000462909.1:p.Ala68=
ENST00000584865.5:n.382T>C
NM_000789.3:c.2436T>C	NP_000780.1:p.Ala812=
NM_001178057.1:c.714T>C	NP_001171528.1:p.Ala238=
NM_152830.2:c.714T>C	NP_690043.1:p.Ala238=
XM_005257110.1:c.1887T>C	XP_005257167.1:p.Ala629=
XM_006721737.2:c.774T>C	XP_006721800.2:p.Ala258=
XM_006721737.3:c.774T>C	XP_006721800.2:p.Ala258=
NM_000789.4:c.2436T>C MANE Select	NP_000780.1:p.Ala812=
NM_001178057.2:c.714T>C	NP_001171528.1:p.Ala238=
NM_152830.3:c.714T>C	NP_690043.1:p.Ala238=
NM_001382700.1:c.1869T>C	NP_001369629.1:p.Ala623=
NM_001382701.1:c.1584T>C	NP_001369630.1:p.Ala528=
NM_001382702.1:c.366T>C	NP_001369631.1:p.Ala122=
NR_168483.1:n.814T>C