Canonical Allele Identifier: CA404764292

Gene: JAK3

Linked Data

• MyVariant Identifiers: chr19:g.17941024A>C (hg19) ; chr19:g.17830215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830215A>C , CM000681.2:g.17830215A>C	GRCh38
NC_000019.9:g.17941024A>C , CM000681.1:g.17941024A>C	GRCh37
NC_000019.8:g.17802024A>C	NCBI36
NG_007273.1:g.22777T>G , LRG_77:g.22777T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1657T>G	ENSP00000513006.1:n.*1657T>G
ENST00000696967.1:n.2277T>G
ENST00000696968.1:n.333T>G
ENST00000696969.1:n.2057T>G
ENST00000458235.7:c.3100T>G MANE Select	ENSP00000391676.1:p.Phe1034Val
ENST00000458235.5:c.3100T>G	ENSP00000391676.1:p.Phe1034Val
ENST00000527031.5:n.2279-4905T>G
ENST00000527670.5:c.3100T>G	ENSP00000432511.1:p.Phe1034Val
ENST00000534444.1:c.3100T>G	ENSP00000436421.1:p.Phe1034Val
NM_000215.3:c.3100T>G , LRG_77t1:c.3100T>G	NP_000206.2:p.Phe1034Val
XM_005259896.2:c.3229T>G	XP_005259953.1:p.Phe1077Val
XM_006722745.2:c.3100T>G	XP_006722808.1:p.Phe1034Val
XM_005259896.3:c.3229T>G	XP_005259953.1:p.Phe1077Val
NM_000215.4:c.3100T>G MANE Select	NP_000206.2:p.Phe1034Val