Canonical Allele Identifier: CA5458212

Gene: JCAD

Linked Data

• dbSNP Id: rs3739998
• ExAC: 10:30316072 C / G
• gnomAD v2: 10-30316072-C-G
• gnomAD v3: 10-30027143-C-G
• gnomAD v4: 10-30027143-C-G
• MyVariant Identifiers: chr10:g.30316072C>G (hg19) ; chr10:g.30027143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30027143C>G , CM000672.2:g.30027143C>G	GRCh38
NC_000010.10:g.30316072C>G , CM000672.1:g.30316072C>G	GRCh37
NC_000010.9:g.30356078C>G	NCBI36
NG_053080.1:g.93352G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375377.2:c.3005G>C MANE Select	ENSP00000364526.1:p.Ser1002Thr
ENST00000375377.1:c.3005G>C	ENSP00000364526.1:p.Ser1002Thr
NM_020848.2:c.3005G>C	NP_065899.1:p.Ser1002Thr
XM_011519608.1:c.3005G>C	XP_011517910.1:p.Ser1002Thr
XM_011519609.1:c.2591G>C	XP_011517911.1:p.Ser864Thr
XM_011519610.1:c.2591G>C	XP_011517912.1:p.Ser864Thr
NM_001350001.1:c.2591G>C	NP_001336930.1:p.Ser864Thr
NM_001350021.1:c.2591G>C	NP_001336950.1:p.Ser864Thr
NM_001350022.1:c.3005G>C	NP_001336951.1:p.Ser1002Thr
NM_020848.3:c.3005G>C	NP_065899.1:p.Ser1002Thr
NM_020848.4:c.3005G>C MANE Select	NP_065899.1:p.Ser1002Thr
NM_001350001.2:c.2591G>C	NP_001336930.1:p.Ser864Thr
NM_001350021.2:c.2591G>C	NP_001336950.1:p.Ser864Thr
NM_001350022.2:c.3005G>C	NP_001336951.1:p.Ser1002Thr