Canonical Allele Identifier: CA506106095

Gene: JAK3

Linked Data

• gnomAD v4: 19-17843413-A-C
• MyVariant Identifiers: chr19:g.17954222A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843413A>C , CM000681.2:g.17843413A>C	GRCh38
NC_000019.9:g.17954222A>C , CM000681.1:g.17954222A>C	GRCh37
NC_000019.8:g.17815222A>C	NCBI36
NG_007273.1:g.9579T>G , LRG_77:g.9579T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.387T>G	ENSP00000513006.1:p.Leu129=
ENST00000458235.7:c.387T>G MANE Select	ENSP00000391676.1:p.Leu129=
ENST00000458235.5:c.387T>G	ENSP00000391676.1:p.Leu129=
ENST00000526008.5:n.487T>G
ENST00000527031.5:n.477T>G
ENST00000527670.5:c.387T>G	ENSP00000432511.1:p.Leu129=
ENST00000528293.1:n.402T>G
ENST00000534444.1:c.387T>G	ENSP00000436421.1:p.Leu129=
NM_000215.3:c.387T>G , LRG_77t1:c.387T>G	NP_000206.2:p.Leu129=
XM_005259896.2:c.516T>G	XP_005259953.1:p.Leu172=
XM_006722745.2:c.387T>G	XP_006722808.1:p.Leu129=
XM_011527990.1:c.516T>G	XP_011526292.1:p.Leu172=
XM_011527991.1:c.516T>G	XP_011526293.1:p.Leu172=
XR_430137.2:n.526T>G
XM_005259896.3:c.516T>G	XP_005259953.1:p.Leu172=
XM_011527991.2:c.516T>G	XP_011526293.1:p.Leu172=
NM_000215.4:c.387T>G MANE Select	NP_000206.2:p.Leu129=