Canonical Allele Identifier: CA376423078

Gene: JCAD

Linked Data

• MyVariant Identifiers: chr10:g.30316078T>A (hg19) ; chr10:g.30027149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027149T>A , CM000672.2:g.30027149T>A	GRCh38
NC_000010.10:g.30316078T>A , CM000672.1:g.30316078T>A	GRCh37
NC_000010.9:g.30356084T>A	NCBI36
NG_053080.1:g.93346A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375377.2:c.2999A>T MANE Select	ENSP00000364526.1:p.Gln1000Leu
ENST00000375377.1:c.2999A>T	ENSP00000364526.1:p.Gln1000Leu
NM_020848.2:c.2999A>T	NP_065899.1:p.Gln1000Leu
XM_011519608.1:c.2999A>T	XP_011517910.1:p.Gln1000Leu
XM_011519609.1:c.2585A>T	XP_011517911.1:p.Gln862Leu
XM_011519610.1:c.2585A>T	XP_011517912.1:p.Gln862Leu
NM_001350001.1:c.2585A>T	NP_001336930.1:p.Gln862Leu
NM_001350021.1:c.2585A>T	NP_001336950.1:p.Gln862Leu
NM_001350022.1:c.2999A>T	NP_001336951.1:p.Gln1000Leu
NM_020848.3:c.2999A>T	NP_065899.1:p.Gln1000Leu
NM_020848.4:c.2999A>T MANE Select	NP_065899.1:p.Gln1000Leu
NM_001350001.2:c.2585A>T	NP_001336930.1:p.Gln862Leu
NM_001350021.2:c.2585A>T	NP_001336950.1:p.Gln862Leu
NM_001350022.2:c.2999A>T	NP_001336951.1:p.Gln1000Leu