Canonical Allele Identifier: CA404764138

Gene: JAK3

Linked Data

• dbSNP Id: rs1490653202
• gnomAD v2: 19-17940985-G-A
• MyVariant Identifiers: chr19:g.17940985G>A (hg19) ; chr19:g.17830176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830176G>A , CM000681.2:g.17830176G>A	GRCh38
NC_000019.9:g.17940985G>A , CM000681.1:g.17940985G>A	GRCh37
NC_000019.8:g.17801985G>A	NCBI36
NG_007273.1:g.22816C>T , LRG_77:g.22816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1696C>T	ENSP00000513006.1:n.*1696C>T
ENST00000696967.1:n.2316C>T
ENST00000696968.1:n.372C>T
ENST00000696969.1:n.2096C>T
ENST00000458235.7:c.3139C>T MANE Select	ENSP00000391676.1:p.Leu1047Phe
ENST00000458235.5:c.3139C>T	ENSP00000391676.1:p.Leu1047Phe
ENST00000527031.5:n.2279-4866C>T
ENST00000527670.5:c.3139C>T	ENSP00000432511.1:p.Leu1047Phe
ENST00000534444.1:c.3139C>T	ENSP00000436421.1:p.Leu1047Phe
NM_000215.3:c.3139C>T , LRG_77t1:c.3139C>T	NP_000206.2:p.Leu1047Phe
XM_005259896.2:c.3268C>T	XP_005259953.1:p.Leu1090Phe
XM_006722745.2:c.3139C>T	XP_006722808.1:p.Leu1047Phe
XM_005259896.3:c.3268C>T	XP_005259953.1:p.Leu1090Phe
NM_000215.4:c.3139C>T MANE Select	NP_000206.2:p.Leu1047Phe