Canonical Allele Identifier: CA506106134

Gene: JAK3

Linked Data

• gnomAD v4: 19-17843434-C-T
• COSMIC: COSM4544920 ; COSM4544921
• MyVariant Identifiers: chr19:g.17954243C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843434C>T , CM000681.2:g.17843434C>T	GRCh38
NC_000019.9:g.17954243C>T , CM000681.1:g.17954243C>T	GRCh37
NC_000019.8:g.17815243C>T	NCBI36
NG_007273.1:g.9558G>A , LRG_77:g.9558G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.366G>A	ENSP00000513006.1:p.Lys122=
ENST00000458235.7:c.366G>A MANE Select	ENSP00000391676.1:p.Lys122=
ENST00000458235.5:c.366G>A	ENSP00000391676.1:p.Lys122=
ENST00000526008.5:n.466G>A
ENST00000527031.5:n.456G>A
ENST00000527670.5:c.366G>A	ENSP00000432511.1:p.Lys122=
ENST00000528293.1:n.381G>A
ENST00000534444.1:c.366G>A	ENSP00000436421.1:p.Lys122=
NM_000215.3:c.366G>A , LRG_77t1:c.366G>A	NP_000206.2:p.Lys122=
XM_005259896.2:c.495G>A	XP_005259953.1:p.Lys165=
XM_006722745.2:c.366G>A	XP_006722808.1:p.Lys122=
XM_011527990.1:c.495G>A	XP_011526292.1:p.Lys165=
XM_011527991.1:c.495G>A	XP_011526293.1:p.Lys165=
XR_430137.2:n.505G>A
XM_005259896.3:c.495G>A	XP_005259953.1:p.Lys165=
XM_011527991.2:c.495G>A	XP_011526293.1:p.Lys165=
NM_000215.4:c.366G>A MANE Select	NP_000206.2:p.Lys122=