Canonical Allele Identifier: CA468975007

Gene: JCAD

Linked Data

• MyVariant Identifiers: chr10:g.30316077C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027148C>T , CM000672.2:g.30027148C>T	GRCh38
NC_000010.10:g.30316077C>T , CM000672.1:g.30316077C>T	GRCh37
NC_000010.9:g.30356083C>T	NCBI36
NG_053080.1:g.93347G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375377.2:c.3000G>A MANE Select	ENSP00000364526.1:p.Gln1000=
ENST00000375377.1:c.3000G>A	ENSP00000364526.1:p.Gln1000=
NM_020848.2:c.3000G>A	NP_065899.1:p.Gln1000=
XM_011519608.1:c.3000G>A	XP_011517910.1:p.Gln1000=
XM_011519609.1:c.2586G>A	XP_011517911.1:p.Gln862=
XM_011519610.1:c.2586G>A	XP_011517912.1:p.Gln862=
NM_001350001.1:c.2586G>A	NP_001336930.1:p.Gln862=
NM_001350021.1:c.2586G>A	NP_001336950.1:p.Gln862=
NM_001350022.1:c.3000G>A	NP_001336951.1:p.Gln1000=
NM_020848.3:c.3000G>A	NP_065899.1:p.Gln1000=
NM_020848.4:c.3000G>A MANE Select	NP_065899.1:p.Gln1000=
NM_001350001.2:c.2586G>A	NP_001336930.1:p.Gln862=
NM_001350021.2:c.2586G>A	NP_001336950.1:p.Gln862=
NM_001350022.2:c.3000G>A	NP_001336951.1:p.Gln1000=