Canonical Allele Identifier: CA5518203

Gene: JMJD1C

Linked Data

• ClinVar Variation Id: 460254
• ClinVar RCV Id: RCV000532510
• dbSNP Id: rs189704160
• ExAC: 10:64966604 T / C
• gnomAD v2: 10-64966604-T-C
• gnomAD v3: 10-63206844-T-C
• gnomAD v4: 10-63206844-T-C
• MyVariant Identifiers: chr10:g.64966604T>C (hg19) ; chr10:g.63206844T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.63206844T>C , CM000672.2:g.63206844T>C	GRCh38
NC_000010.10:g.64966604T>C , CM000672.1:g.64966604T>C	GRCh37
NC_000010.9:g.64636610T>C	NCBI36
NG_053187.1:g.320232A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399262.7:c.4825A>G MANE Select	ENSP00000382204.2:p.Lys1609Glu
ENST00000639129.1:c.4279A>G	ENSP00000491195.1:p.Lys1427Glu
ENST00000327520.7:c.882A>G
ENST00000399262.6:c.4825A>G	ENSP00000382204.2:p.Lys1609Glu
ENST00000402544.5:n.4797A>G
ENST00000542921.5:c.4279A>G	ENSP00000444682.1:p.Lys1427Glu
NM_001282948.1:c.4279A>G	NP_001269877.1:p.Lys1427Glu
NM_032776.2:c.4825A>G	NP_116165.1:p.Lys1609Glu
XM_005269624.2:c.4168A>G	XP_005269681.1:p.Lys1390Glu
XM_005269626.2:c.3961A>G	XP_005269683.1:p.Lys1321Glu
XM_011539502.1:c.4204A>G	XP_011537804.1:p.Lys1402Glu
XM_011539503.1:c.4279A>G	XP_011537805.1:p.Lys1427Glu
XM_011539504.1:c.4279A>G	XP_011537806.1:p.Lys1427Glu
XM_011539505.1:c.4168A>G	XP_011537807.1:p.Lys1390Glu
XM_011539506.1:c.3961A>G	XP_011537808.1:p.Lys1321Glu
XM_011539507.1:c.4279A>G	XP_011537809.1:p.Lys1427Glu
XM_011539508.1:c.4279A>G	XP_011537810.1:p.Lys1427Glu
XR_945628.1:n.4657A>G
XR_945629.1:n.4657A>G
NM_001318153.1:c.3961A>G	NP_001305082.1:p.Lys1321Glu
NM_001318154.1:c.4279A>G	NP_001305083.1:p.Lys1427Glu
NM_001322252.1:c.4711A>G	NP_001309181.1:p.Lys1571Glu
NM_001322254.1:c.4168A>G	NP_001309183.1:p.Lys1390Glu
NM_001322258.1:c.4168A>G	NP_001309187.1:p.Lys1390Glu
NR_134512.1:n.4833A>G
XM_011539508.2:c.4279A>G	XP_011537810.1:p.Lys1427Glu
XM_017015897.1:c.4279A>G	XP_016871386.1:p.Lys1427Glu
XM_017015898.1:c.4279A>G	XP_016871387.1:p.Lys1427Glu
XM_017015899.1:c.3961A>G	XP_016871388.1:p.Lys1321Glu
XM_017015900.1:c.3961A>G	XP_016871389.1:p.Lys1321Glu
XM_017015901.1:c.3961A>G	XP_016871390.1:p.Lys1321Glu
XM_017015902.1:c.3961A>G	XP_016871391.1:p.Lys1321Glu
XM_017015903.1:c.3961A>G	XP_016871392.1:p.Lys1321Glu
XM_024447882.1:c.4168A>G	XP_024303650.1:p.Lys1390Glu
XM_024447883.1:c.4168A>G	XP_024303651.1:p.Lys1390Glu
NM_032776.3:c.4825A>G MANE Select	NP_116165.1:p.Lys1609Glu
NM_001318153.2:c.3961A>G	NP_001305082.1:p.Lys1321Glu
NM_001318154.2:c.4279A>G	NP_001305083.1:p.Lys1427Glu
NM_001322252.2:c.4711A>G	NP_001309181.1:p.Lys1571Glu
NM_001322254.2:c.4168A>G	NP_001309183.1:p.Lys1390Glu
NM_001322258.2:c.4168A>G	NP_001309187.1:p.Lys1390Glu
NM_001282948.2:c.4279A>G	NP_001269877.1:p.Lys1427Glu
NR_134512.2:n.4853A>G