Canonical Allele Identifier: CA5517703

Gene: JMJD1C

Linked Data

• ClinVar Variation Id: 460277
• ClinVar RCV Id: RCV000533024
• dbSNP Id: rs34491125
• ExAC: 10:64937501 G / C
• gnomAD v2: 10-64937501-G-C
• gnomAD v3: 10-63177741-G-C
• gnomAD v4: 10-63177741-G-C
• MyVariant Identifiers: chr10:g.64937501G>C (hg19) ; chr10:g.63177741G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.63177741G>C , CM000672.2:g.63177741G>C	GRCh38
NC_000010.10:g.64937501G>C , CM000672.1:g.64937501G>C	GRCh37
NC_000010.9:g.64607507G>C	NCBI36
NG_053187.1:g.349335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399262.7:c.7200C>G MANE Select	ENSP00000382204.2:p.Asp2400Glu
ENST00000639129.1:c.6654C>G	ENSP00000491195.1:p.Asp2218Glu
ENST00000327520.7:c.2840C>G
ENST00000399262.6:c.7200C>G	ENSP00000382204.2:p.Asp2400Glu
ENST00000402544.5:n.6916C>G
ENST00000542921.5:c.6654C>G	ENSP00000444682.1:p.Asp2218Glu
NM_001282948.1:c.6654C>G	NP_001269877.1:p.Asp2218Glu
NM_032776.2:c.7200C>G	NP_116165.1:p.Asp2400Glu
XM_005269624.2:c.6543C>G	XP_005269681.1:p.Asp2181Glu
XM_005269626.2:c.6336C>G	XP_005269683.1:p.Asp2112Glu
XM_011539502.1:c.6579C>G	XP_011537804.1:p.Asp2193Glu
XM_011539503.1:c.6531C>G	XP_011537805.1:p.Asp2177Glu
XM_011539504.1:c.6237C>G	XP_011537806.1:p.Asp2079Glu
XM_011539505.1:c.6543C>G	XP_011537807.1:p.Asp2181Glu
XM_011539506.1:c.6336C>G	XP_011537808.1:p.Asp2112Glu
NM_001318153.1:c.6336C>G	NP_001305082.1:p.Asp2112Glu
NM_001318154.1:c.6654C>G	NP_001305083.1:p.Asp2218Glu
NM_001322252.1:c.7086C>G	NP_001309181.1:p.Asp2362Glu
NM_001322254.1:c.6543C>G	NP_001309183.1:p.Asp2181Glu
NM_001322258.1:c.6543C>G	NP_001309187.1:p.Asp2181Glu
NR_134512.1:n.6952C>G
XM_017015897.1:c.6654C>G	XP_016871386.1:p.Asp2218Glu
XM_017015898.1:c.6654C>G	XP_016871387.1:p.Asp2218Glu
XM_017015899.1:c.6336C>G	XP_016871388.1:p.Asp2112Glu
XM_017015900.1:c.6336C>G	XP_016871389.1:p.Asp2112Glu
XM_017015901.1:c.6336C>G	XP_016871390.1:p.Asp2112Glu
XM_017015902.1:c.6336C>G	XP_016871391.1:p.Asp2112Glu
XM_017015903.1:c.6336C>G	XP_016871392.1:p.Asp2112Glu
XM_024447882.1:c.6543C>G	XP_024303650.1:p.Asp2181Glu
XM_024447883.1:c.6543C>G	XP_024303651.1:p.Asp2181Glu
NM_032776.3:c.7200C>G MANE Select	NP_116165.1:p.Asp2400Glu
NM_001318153.2:c.6336C>G	NP_001305082.1:p.Asp2112Glu
NM_001318154.2:c.6654C>G	NP_001305083.1:p.Asp2218Glu
NM_001322252.2:c.7086C>G	NP_001309181.1:p.Asp2362Glu
NM_001322254.2:c.6543C>G	NP_001309183.1:p.Asp2181Glu
NM_001322258.2:c.6543C>G	NP_001309187.1:p.Asp2181Glu
NM_001282948.2:c.6654C>G	NP_001269877.1:p.Asp2218Glu
NR_134512.2:n.6972C>G