Canonical Allele Identifier: CA404773130

Gene: JAK3

Linked Data

• dbSNP Id: rs2094243941
• MyVariant Identifiers: chr19:g.17953884A>C (hg19) ; chr19:g.17843075A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843075A>C , CM000681.2:g.17843075A>C	GRCh38
NC_000019.9:g.17953884A>C , CM000681.1:g.17953884A>C	GRCh37
NC_000019.8:g.17814884A>C	NCBI36
NG_007273.1:g.9917T>G , LRG_77:g.9917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.518T>G	ENSP00000513006.1:p.Met173Arg
ENST00000458235.7:c.518T>G MANE Select	ENSP00000391676.1:p.Met173Arg
ENST00000458235.5:c.518T>G	ENSP00000391676.1:p.Met173Arg
ENST00000526008.5:n.618T>G
ENST00000527031.5:n.608T>G
ENST00000527670.5:c.518T>G	ENSP00000432511.1:p.Met173Arg
ENST00000528293.1:n.533T>G
ENST00000534444.1:c.518T>G	ENSP00000436421.1:p.Met173Arg
NM_000215.3:c.518T>G , LRG_77t1:c.518T>G	NP_000206.2:p.Met173Arg
XM_005259896.2:c.647T>G	XP_005259953.1:p.Met216Arg
XM_006722745.2:c.518T>G	XP_006722808.1:p.Met173Arg
XM_011527990.1:c.647T>G	XP_011526292.1:p.Met216Arg
XM_011527991.1:c.647T>G	XP_011526293.1:p.Met216Arg
XR_430137.2:n.657T>G
XM_005259896.3:c.647T>G	XP_005259953.1:p.Met216Arg
XM_011527991.2:c.647T>G	XP_011526293.1:p.Met216Arg
NM_000215.4:c.518T>G MANE Select	NP_000206.2:p.Met173Arg