Canonical Allele Identifier: CA404774717

Gene: JAK3

Linked Data

• gnomAD v4: 19-17843877-G-A
• MyVariant Identifiers: chr19:g.17954686G>A (hg19) ; chr19:g.17843877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843877G>A , CM000681.2:g.17843877G>A	GRCh38
NC_000019.9:g.17954686G>A , CM000681.1:g.17954686G>A	GRCh37
NC_000019.8:g.17815686G>A	NCBI36
NG_007273.1:g.9115C>T , LRG_77:g.9115C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.208C>T	ENSP00000513006.1:p.Leu70Phe
ENST00000458235.7:c.208C>T MANE Select	ENSP00000391676.1:p.Leu70Phe
ENST00000458235.5:c.208C>T	ENSP00000391676.1:p.Leu70Phe
ENST00000526008.5:n.308C>T
ENST00000527031.5:n.298C>T
ENST00000527670.5:c.208C>T	ENSP00000432511.1:p.Leu70Phe
ENST00000528293.1:n.323+357C>T
ENST00000534444.1:c.208C>T	ENSP00000436421.1:p.Leu70Phe
NM_000215.3:c.208C>T , LRG_77t1:c.208C>T	NP_000206.2:p.Leu70Phe
XM_005259896.2:c.337C>T	XP_005259953.1:p.Leu113Phe
XM_006722745.2:c.208C>T	XP_006722808.1:p.Leu70Phe
XM_011527990.1:c.337C>T	XP_011526292.1:p.Leu113Phe
XM_011527991.1:c.337C>T	XP_011526293.1:p.Leu113Phe
XR_430137.2:n.347C>T
XM_005259896.3:c.337C>T	XP_005259953.1:p.Leu113Phe
XM_011527991.2:c.337C>T	XP_011526293.1:p.Leu113Phe
NM_000215.4:c.208C>T MANE Select	NP_000206.2:p.Leu70Phe