Canonical Allele Identifier: CA376423075

Gene: JCAD

Linked Data

• COSMIC: COSM136782
• MyVariant Identifiers: chr10:g.30316076C>T (hg19) ; chr10:g.30027147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027147C>T , CM000672.2:g.30027147C>T	GRCh38
NC_000010.10:g.30316076C>T , CM000672.1:g.30316076C>T	GRCh37
NC_000010.9:g.30356082C>T	NCBI36
NG_053080.1:g.93348G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375377.2:c.3001G>A MANE Select	ENSP00000364526.1:p.Glu1001Lys
ENST00000375377.1:c.3001G>A	ENSP00000364526.1:p.Glu1001Lys
NM_020848.2:c.3001G>A	NP_065899.1:p.Glu1001Lys
XM_011519608.1:c.3001G>A	XP_011517910.1:p.Glu1001Lys
XM_011519609.1:c.2587G>A	XP_011517911.1:p.Glu863Lys
XM_011519610.1:c.2587G>A	XP_011517912.1:p.Glu863Lys
NM_001350001.1:c.2587G>A	NP_001336930.1:p.Glu863Lys
NM_001350021.1:c.2587G>A	NP_001336950.1:p.Glu863Lys
NM_001350022.1:c.3001G>A	NP_001336951.1:p.Glu1001Lys
NM_020848.3:c.3001G>A	NP_065899.1:p.Glu1001Lys
NM_020848.4:c.3001G>A MANE Select	NP_065899.1:p.Glu1001Lys
NM_001350001.2:c.2587G>A	NP_001336930.1:p.Glu863Lys
NM_001350021.2:c.2587G>A	NP_001336950.1:p.Glu863Lys
NM_001350022.2:c.3001G>A	NP_001336951.1:p.Glu1001Lys