Canonical Allele Identifier: CA501341487

Gene: ACE

Linked Data

• gnomAD v4: 17-63478020-G-C
• COSMIC: COSM5962565 ; COSM5962566
• MyVariant Identifiers: chr17:g.61555381G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478020G>C , CM000679.2:g.63478020G>C	GRCh38
NC_000017.10:g.61555381G>C , CM000679.1:g.61555381G>C	GRCh37
NC_000017.9:g.58909113G>C	NCBI36
NG_011648.1:g.5948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.339G>C MANE Select	ENSP00000290866.4:p.Thr113=
ENST00000290866.9:c.339G>C	ENSP00000290866.4:p.Thr113=
ENST00000428043.5:c.339G>C	ENSP00000397593.2:p.Thr113=
ENST00000579462.1:n.364G>C
ENST00000580318.1:n.528G>C
ENST00000582627.1:c.339G>C	ENSP00000462280.1:p.Thr113=
ENST00000582678.5:c.339G>C	ENSP00000462995.1:p.Thr113=
ENST00000583336.5:n.373G>C
ENST00000584529.5:n.373G>C
NM_000789.3:c.339G>C	NP_000780.1:p.Thr113=
XM_005257110.1:c.-117G>C	XP_005257167.1:n.-117G>C
NM_000789.4:c.339G>C MANE Select	NP_000780.1:p.Thr113=
NM_001382700.1:c.104G>C	NP_001369629.1:p.Arg35Pro
NM_001382701.1:c.-276G>C	NP_001369630.1:n.-276G>C