Canonical Allele Identifier: CA506004122

Gene: JAK3

Linked Data

• MyVariant Identifiers: chr19:g.17947966C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837157C>G , CM000681.2:g.17837157C>G	GRCh38
NC_000019.9:g.17947966C>G , CM000681.1:g.17947966C>G	GRCh37
NC_000019.8:g.17808966C>G	NCBI36
NG_007273.1:g.15835G>C , LRG_77:g.15835G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*315G>C	ENSP00000513006.1:n.*315G>C
ENST00000696967.1:n.935G>C
ENST00000696970.1:n.413G>C
ENST00000458235.7:c.1758G>C MANE Select	ENSP00000391676.1:p.Leu586=
ENST00000458235.5:c.1758G>C	ENSP00000391676.1:p.Leu586=
ENST00000527031.5:n.1848G>C
ENST00000527670.5:c.1758G>C	ENSP00000432511.1:p.Leu586=
ENST00000534444.1:c.1758G>C	ENSP00000436421.1:p.Leu586=
NM_000215.3:c.1758G>C , LRG_77t1:c.1758G>C	NP_000206.2:p.Leu586=
XM_005259896.2:c.1887G>C	XP_005259953.1:p.Leu629=
XM_006722745.2:c.1758G>C	XP_006722808.1:p.Leu586=
XM_011527990.1:c.1887G>C	XP_011526292.1:p.Leu629=
XM_011527991.1:c.1887G>C	XP_011526293.1:p.Leu629=
XR_430137.2:n.1897G>C
XM_005259896.3:c.1887G>C	XP_005259953.1:p.Leu629=
XM_011527991.2:c.1887G>C	XP_011526293.1:p.Leu629=
NM_000215.4:c.1758G>C MANE Select	NP_000206.2:p.Leu586=