Canonical Allele Identifier: CA205279068

Gene: JCAD

Linked Data

• dbSNP Id: rs977599349
• gnomAD v3: 10-30034986-G-A
• gnomAD v4: 10-30034986-G-A
• MyVariant Identifiers: chr10:g.30323915G>A (hg19) ; chr10:g.30034986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30034986G>A , CM000672.2:g.30034986G>A	GRCh38
NC_000010.10:g.30323915G>A , CM000672.1:g.30323915G>A	GRCh37
NC_000010.9:g.30363921G>A	NCBI36
NG_053080.1:g.85509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375377.2:c.282-5120C>T MANE Select	ENSP00000364526.1:n.282-5120C>T
ENST00000375377.1:c.282-5120C>T	ENSP00000364526.1:n.282-5120C>T
NM_020848.2:c.282-5120C>T	NP_065899.1:n.282-5120C>T
XM_011519608.1:c.282-5120C>T	XP_011517910.1:n.282-5120C>T
XM_011519609.1:c.-133-5120C>T	XP_011517911.1:n.-133-5120C>T
XM_011519610.1:c.-133-5120C>T	XP_011517912.1:n.-133-5120C>T
NM_001350001.1:c.-133-5120C>T	NP_001336930.1:n.-133-5120C>T
NM_001350021.1:c.-133-5120C>T	NP_001336950.1:n.-133-5120C>T
NM_001350022.1:c.282-5120C>T	NP_001336951.1:n.282-5120C>T
NM_020848.3:c.282-5120C>T	NP_065899.1:n.282-5120C>T
NM_020848.4:c.282-5120C>T MANE Select	NP_065899.1:n.282-5120C>T
NM_001350001.2:c.-133-5120C>T	NP_001336930.1:n.-133-5120C>T
NM_001350021.2:c.-133-5120C>T	NP_001336950.1:n.-133-5120C>T
NM_001350022.2:c.282-5120C>T	NP_001336951.1:n.282-5120C>T