Canonical Allele Identifier: CA377020484

Gene: JMJD1C

Linked Data

• ClinVar Variation Id: 460275
• ClinVar RCV Id: RCV000538835
• dbSNP Id: rs1554828044
• gnomAD v3: 10-63183542-A-G
• gnomAD v4: 10-63183542-A-G
• MyVariant Identifiers: chr10:g.64943302A>G (hg19) ; chr10:g.63183542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.63183542A>G , CM000672.2:g.63183542A>G	GRCh38
NC_000010.10:g.64943302A>G , CM000672.1:g.64943302A>G	GRCh37
NC_000010.9:g.64613308A>G	NCBI36
NG_053187.1:g.343534T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399262.7:c.6989T>C MANE Select	ENSP00000382204.2:p.Ile2330Thr
ENST00000639129.1:c.6443T>C	ENSP00000491195.1:p.Ile2148Thr
ENST00000327520.7:c.2629T>C
ENST00000399262.6:c.6989T>C	ENSP00000382204.2:p.Ile2330Thr
ENST00000402544.5:n.6705T>C
ENST00000542921.5:c.6443T>C	ENSP00000444682.1:p.Ile2148Thr
NM_001282948.1:c.6443T>C	NP_001269877.1:p.Ile2148Thr
NM_032776.2:c.6989T>C	NP_116165.1:p.Ile2330Thr
XM_005269624.2:c.6332T>C	XP_005269681.1:p.Ile2111Thr
XM_005269626.2:c.6125T>C	XP_005269683.1:p.Ile2042Thr
XM_011539502.1:c.6368T>C	XP_011537804.1:p.Ile2123Thr
XM_011539503.1:c.6415+1066T>C	XP_011537805.1:n.6415+1066T>C
XM_011539504.1:c.6026T>C	XP_011537806.1:p.Ile2009Thr
XM_011539505.1:c.6332T>C	XP_011537807.1:p.Ile2111Thr
XM_011539506.1:c.6125T>C	XP_011537808.1:p.Ile2042Thr
NM_001318153.1:c.6125T>C	NP_001305082.1:p.Ile2042Thr
NM_001318154.1:c.6443T>C	NP_001305083.1:p.Ile2148Thr
NM_001322252.1:c.6875T>C	NP_001309181.1:p.Ile2292Thr
NM_001322254.1:c.6332T>C	NP_001309183.1:p.Ile2111Thr
NM_001322258.1:c.6332T>C	NP_001309187.1:p.Ile2111Thr
NR_134512.1:n.6741T>C
XM_017015897.1:c.6443T>C	XP_016871386.1:p.Ile2148Thr
XM_017015898.1:c.6443T>C	XP_016871387.1:p.Ile2148Thr
XM_017015899.1:c.6125T>C	XP_016871388.1:p.Ile2042Thr
XM_017015900.1:c.6125T>C	XP_016871389.1:p.Ile2042Thr
XM_017015901.1:c.6125T>C	XP_016871390.1:p.Ile2042Thr
XM_017015902.1:c.6125T>C	XP_016871391.1:p.Ile2042Thr
XM_017015903.1:c.6125T>C	XP_016871392.1:p.Ile2042Thr
XM_024447882.1:c.6332T>C	XP_024303650.1:p.Ile2111Thr
XM_024447883.1:c.6332T>C	XP_024303651.1:p.Ile2111Thr
NM_032776.3:c.6989T>C MANE Select	NP_116165.1:p.Ile2330Thr
NM_001318153.2:c.6125T>C	NP_001305082.1:p.Ile2042Thr
NM_001318154.2:c.6443T>C	NP_001305083.1:p.Ile2148Thr
NM_001322252.2:c.6875T>C	NP_001309181.1:p.Ile2292Thr
NM_001322254.2:c.6332T>C	NP_001309183.1:p.Ile2111Thr
NM_001322258.2:c.6332T>C	NP_001309187.1:p.Ile2111Thr
NM_001282948.2:c.6443T>C	NP_001269877.1:p.Ile2148Thr
NR_134512.2:n.6761T>C