Canonical Allele Identifier: CA2583423458

Gene: JAK3

Linked Data

• gnomAD v4: 19-17834808-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834808C>G , CM000681.2:g.17834808C>G	GRCh38
NC_000019.9:g.17945617C>G , CM000681.1:g.17945617C>G	GRCh37
NC_000019.8:g.17806617C>G	NCBI36
NG_007273.1:g.18184G>C , LRG_77:g.18184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*756+44G>C	ENSP00000513006.1:n.*756+44G>C
ENST00000696967.1:n.1376+44G>C
ENST00000696970.1:n.854+44G>C
ENST00000458235.7:c.2199+44G>C MANE Select	ENSP00000391676.1:n.2199+44G>C
ENST00000458235.5:c.2199+44G>C	ENSP00000391676.1:n.2199+44G>C
ENST00000527031.5:n.2278+1919G>C
ENST00000527670.5:c.2199+44G>C	ENSP00000432511.1:n.2199+44G>C
ENST00000534444.1:c.2199+44G>C	ENSP00000436421.1:n.2199+44G>C
NM_000215.3:c.2199+44G>C , LRG_77t1:c.2199+44G>C	NP_000206.2:n.2199+44G>C
XM_005259896.2:c.2328+44G>C	XP_005259953.1:n.2328+44G>C
XM_006722745.2:c.2199+44G>C	XP_006722808.1:n.2199+44G>C
XM_011527990.1:c.2328+44G>C	XP_011526292.1:n.2328+44G>C
XR_430137.2:n.2338+44G>C
XM_005259896.3:c.2328+44G>C	XP_005259953.1:n.2328+44G>C
NM_000215.4:c.2199+44G>C MANE Select	NP_000206.2:n.2199+44G>C