Canonical Allele Identifier: CA2739276631

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2819150
• ClinVar RCV Id: RCV003622718

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17835022G>C , CM000681.2:g.17835022G>C	GRCh38
NC_000019.9:g.17945831G>C , CM000681.1:g.17945831G>C	GRCh37
NC_000019.8:g.17806831G>C	NCBI36
NG_007273.1:g.17970C>G , LRG_77:g.17970C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*605-19C>G	ENSP00000513006.1:n.*605-19C>G
ENST00000696967.1:n.1225-19C>G
ENST00000696970.1:n.703-19C>G
ENST00000458235.7:c.2048-19C>G MANE Select	ENSP00000391676.1:n.2048-19C>G
ENST00000458235.5:c.2048-19C>G	ENSP00000391676.1:n.2048-19C>G
ENST00000527031.5:n.2278+1705C>G
ENST00000527670.5:c.2048-19C>G	ENSP00000432511.1:n.2048-19C>G
ENST00000534444.1:c.2048-19C>G	ENSP00000436421.1:n.2048-19C>G
NM_000215.3:c.2048-19C>G , LRG_77t1:c.2048-19C>G	NP_000206.2:n.2048-19C>G
XM_005259896.2:c.2177-19C>G	XP_005259953.1:n.2177-19C>G
XM_006722745.2:c.2048-19C>G	XP_006722808.1:n.2048-19C>G
XM_011527990.1:c.2177-19C>G	XP_011526292.1:n.2177-19C>G
XR_430137.2:n.2187-19C>G
XM_005259896.3:c.2177-19C>G	XP_005259953.1:n.2177-19C>G
NM_000215.4:c.2048-19C>G MANE Select	NP_000206.2:n.2048-19C>G