Canonical Allele Identifier: CA9302230

Gene: JAK3

Linked Data

• dbSNP Id: rs764992083
• ExAC: 19:17954741 G / C
• gnomAD v2: 19-17954741-G-C
• gnomAD v4: 19-17843932-G-C
• MyVariant Identifiers: chr19:g.17954741G>C (hg19) ; chr19:g.17843932G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843932G>C , CM000681.2:g.17843932G>C	GRCh38
NC_000019.9:g.17954741G>C , CM000681.1:g.17954741G>C	GRCh37
NC_000019.8:g.17815741G>C	NCBI36
NG_007273.1:g.9060C>G , LRG_77:g.9060C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.185-32C>G	ENSP00000513006.1:n.185-32C>G
ENST00000458235.7:c.185-32C>G MANE Select	ENSP00000391676.1:n.185-32C>G
ENST00000458235.5:c.185-32C>G	ENSP00000391676.1:n.185-32C>G
ENST00000526008.5:n.285-32C>G
ENST00000527031.5:n.275-32C>G
ENST00000527670.5:c.185-32C>G	ENSP00000432511.1:n.185-32C>G
ENST00000528293.1:n.323+302C>G
ENST00000534444.1:c.185-32C>G	ENSP00000436421.1:n.185-32C>G
NM_000215.3:c.185-32C>G , LRG_77t1:c.185-32C>G	NP_000206.2:n.185-32C>G
XM_005259896.2:c.314-32C>G	XP_005259953.1:n.314-32C>G
XM_006722745.2:c.185-32C>G	XP_006722808.1:n.185-32C>G
XM_011527990.1:c.314-32C>G	XP_011526292.1:n.314-32C>G
XM_011527991.1:c.314-32C>G	XP_011526293.1:n.314-32C>G
XR_430137.2:n.324-32C>G
XM_005259896.3:c.314-32C>G	XP_005259953.1:n.314-32C>G
XM_011527991.2:c.314-32C>G	XP_011526293.1:n.314-32C>G
NM_000215.4:c.185-32C>G MANE Select	NP_000206.2:n.185-32C>G