Canonical Allele Identifier: CA400540788

Gene: ACE

Linked Data

• gnomAD v4: 17-63478031-T-C
• MyVariant Identifiers: chr17:g.61555392T>C (hg19) ; chr17:g.63478031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478031T>C , CM000679.2:g.63478031T>C	GRCh38
NC_000017.10:g.61555392T>C , CM000679.1:g.61555392T>C	GRCh37
NC_000017.9:g.58909124T>C	NCBI36
NG_011648.1:g.5959T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.350T>C MANE Select	ENSP00000290866.4:p.Leu117Pro
ENST00000290866.9:c.350T>C	ENSP00000290866.4:p.Leu117Pro
ENST00000428043.5:c.350T>C	ENSP00000397593.2:p.Leu117Pro
ENST00000579462.1:n.375T>C
ENST00000580318.1:n.539T>C
ENST00000582627.1:c.350T>C	ENSP00000462280.1:p.Leu117Pro
ENST00000582678.5:c.350T>C	ENSP00000462995.1:p.Leu117Pro
ENST00000583336.5:n.384T>C
ENST00000584529.5:n.384T>C
NM_000789.3:c.350T>C	NP_000780.1:p.Leu117Pro
XM_005257110.1:c.-106T>C	XP_005257167.1:n.-106T>C
NM_000789.4:c.350T>C MANE Select	NP_000780.1:p.Leu117Pro
NM_001382700.1:c.115T>C	NP_001369629.1:p.Cys39Arg
NM_001382701.1:c.-265T>C	NP_001369630.1:n.-265T>C