Canonical Allele Identifier: CA404764212

Gene: JAK3

Linked Data

• MyVariant Identifiers: chr19:g.17941003C>G (hg19) ; chr19:g.17830194C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830194C>G , CM000681.2:g.17830194C>G	GRCh38
NC_000019.9:g.17941003C>G , CM000681.1:g.17941003C>G	GRCh37
NC_000019.8:g.17802003C>G	NCBI36
NG_007273.1:g.22798G>C , LRG_77:g.22798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1678G>C	ENSP00000513006.1:n.*1678G>C
ENST00000696967.1:n.2298G>C
ENST00000696968.1:n.354G>C
ENST00000696969.1:n.2078G>C
ENST00000458235.7:c.3121G>C MANE Select	ENSP00000391676.1:p.Glu1041Gln
ENST00000458235.5:c.3121G>C	ENSP00000391676.1:p.Glu1041Gln
ENST00000527031.5:n.2279-4884G>C
ENST00000527670.5:c.3121G>C	ENSP00000432511.1:p.Glu1041Gln
ENST00000534444.1:c.3121G>C	ENSP00000436421.1:p.Glu1041Gln
NM_000215.3:c.3121G>C , LRG_77t1:c.3121G>C	NP_000206.2:p.Glu1041Gln
XM_005259896.2:c.3250G>C	XP_005259953.1:p.Glu1084Gln
XM_006722745.2:c.3121G>C	XP_006722808.1:p.Glu1041Gln
XM_005259896.3:c.3250G>C	XP_005259953.1:p.Glu1084Gln
NM_000215.4:c.3121G>C MANE Select	NP_000206.2:p.Glu1041Gln