Canonical Allele Identifier: CA506106236

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2907678
• ClinVar RCV Id: RCV003622158
• dbSNP Id: rs1814643433
• gnomAD v4: 19-17843143-G-A
• MyVariant Identifiers: chr19:g.17953952G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843143G>A , CM000681.2:g.17843143G>A	GRCh38
NC_000019.9:g.17953952G>A , CM000681.1:g.17953952G>A	GRCh37
NC_000019.8:g.17814952G>A	NCBI36
NG_007273.1:g.9849C>T , LRG_77:g.9849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.450C>T	ENSP00000513006.1:p.Leu150=
ENST00000458235.7:c.450C>T MANE Select	ENSP00000391676.1:p.Leu150=
ENST00000458235.5:c.450C>T	ENSP00000391676.1:p.Leu150=
ENST00000526008.5:n.550C>T
ENST00000527031.5:n.540C>T
ENST00000527670.5:c.450C>T	ENSP00000432511.1:p.Leu150=
ENST00000528293.1:n.465C>T
ENST00000534444.1:c.450C>T	ENSP00000436421.1:p.Leu150=
NM_000215.3:c.450C>T , LRG_77t1:c.450C>T	NP_000206.2:p.Leu150=
XM_005259896.2:c.579C>T	XP_005259953.1:p.Leu193=
XM_006722745.2:c.450C>T	XP_006722808.1:p.Leu150=
XM_011527990.1:c.579C>T	XP_011526292.1:p.Leu193=
XM_011527991.1:c.579C>T	XP_011526293.1:p.Leu193=
XR_430137.2:n.589C>T
XM_005259896.3:c.579C>T	XP_005259953.1:p.Leu193=
XM_011527991.2:c.579C>T	XP_011526293.1:p.Leu193=
NM_000215.4:c.450C>T MANE Select	NP_000206.2:p.Leu150=