Canonical Allele Identifier: CA404767438

Gene: JAK3

Linked Data

• ClinVar Variation Id: 891243
• ClinVar RCV Id: RCV001126404
• dbSNP Id: rs2094220604
• gnomAD v4: 19-17834663-G-T
• MyVariant Identifiers: chr19:g.17945472G>T (hg19) ; chr19:g.17834663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834663G>T , CM000681.2:g.17834663G>T	GRCh38
NC_000019.9:g.17945472G>T , CM000681.1:g.17945472G>T	GRCh37
NC_000019.8:g.17806472G>T	NCBI36
NG_007273.1:g.18329C>A , LRG_77:g.18329C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*815C>A	ENSP00000513006.1:n.*815C>A
ENST00000696967.1:n.1435C>A
ENST00000696970.1:n.913C>A
ENST00000458235.7:c.2258C>A MANE Select	ENSP00000391676.1:p.Ala753Asp
ENST00000458235.5:c.2258C>A	ENSP00000391676.1:p.Ala753Asp
ENST00000527031.5:n.2278+2064C>A
ENST00000527670.5:c.2258C>A	ENSP00000432511.1:p.Ala753Asp
ENST00000534444.1:c.2258C>A	ENSP00000436421.1:p.Ala753Asp
NM_000215.3:c.2258C>A , LRG_77t1:c.2258C>A	NP_000206.2:p.Ala753Asp
XM_005259896.2:c.2387C>A	XP_005259953.1:p.Ala796Asp
XM_006722745.2:c.2258C>A	XP_006722808.1:p.Ala753Asp
XM_011527990.1:c.2387C>A	XP_011526292.1:p.Ala796Asp
XR_430137.2:n.2397C>A
XM_005259896.3:c.2387C>A	XP_005259953.1:p.Ala796Asp
NM_000215.4:c.2258C>A MANE Select	NP_000206.2:p.Ala753Asp