Canonical Allele Identifier: CA404773396

Gene: JAK3

Linked Data

• gnomAD v4: 19-17843153-C-G
• MyVariant Identifiers: chr19:g.17953962C>G (hg19) ; chr19:g.17843153C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843153C>G , CM000681.2:g.17843153C>G	GRCh38
NC_000019.9:g.17953962C>G , CM000681.1:g.17953962C>G	GRCh37
NC_000019.8:g.17814962C>G	NCBI36
NG_007273.1:g.9839G>C , LRG_77:g.9839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.440G>C	ENSP00000513006.1:p.Ser147Thr
ENST00000458235.7:c.440G>C MANE Select	ENSP00000391676.1:p.Ser147Thr
ENST00000458235.5:c.440G>C	ENSP00000391676.1:p.Ser147Thr
ENST00000526008.5:n.540G>C
ENST00000527031.5:n.530G>C
ENST00000527670.5:c.440G>C	ENSP00000432511.1:p.Ser147Thr
ENST00000528293.1:n.455G>C
ENST00000534444.1:c.440G>C	ENSP00000436421.1:p.Ser147Thr
NM_000215.3:c.440G>C , LRG_77t1:c.440G>C	NP_000206.2:p.Ser147Thr
XM_005259896.2:c.569G>C	XP_005259953.1:p.Ser190Thr
XM_006722745.2:c.440G>C	XP_006722808.1:p.Ser147Thr
XM_011527990.1:c.569G>C	XP_011526292.1:p.Ser190Thr
XM_011527991.1:c.569G>C	XP_011526293.1:p.Ser190Thr
XR_430137.2:n.579G>C
XM_005259896.3:c.569G>C	XP_005259953.1:p.Ser190Thr
XM_011527991.2:c.569G>C	XP_011526293.1:p.Ser190Thr
NM_000215.4:c.440G>C MANE Select	NP_000206.2:p.Ser147Thr