Canonical Allele Identifier: CA404763774

Gene: JAK3

Linked Data

• dbSNP Id: rs1379698231
• gnomAD v2: 19-17940885-T-C
• gnomAD v4: 19-17830076-T-C
• MyVariant Identifiers: chr19:g.17940885T>C (hg19) ; chr19:g.17830076T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830076T>C , CM000681.2:g.17830076T>C	GRCh38
NC_000019.9:g.17940885T>C , CM000681.1:g.17940885T>C	GRCh37
NC_000019.8:g.17801885T>C	NCBI36
NG_007273.1:g.22916A>G , LRG_77:g.22916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+32A>G	ENSP00000513006.1:n.*1764+32A>G
ENST00000696967.1:n.2384+32A>G
ENST00000696968.1:n.440+32A>G
ENST00000696969.1:n.2164+32A>G
ENST00000458235.7:c.3207+32A>G MANE Select	ENSP00000391676.1:n.3207+32A>G
ENST00000458235.5:c.3207+32A>G	ENSP00000391676.1:n.3207+32A>G
ENST00000527031.5:n.2279-4766A>G
ENST00000527670.5:c.3207+32A>G	ENSP00000432511.1:n.3207+32A>G
ENST00000534444.1:c.3239A>G	ENSP00000436421.1:p.Gln1080Arg
NM_000215.3:c.3207+32A>G , LRG_77t1:c.3207+32A>G	NP_000206.2:n.3207+32A>G
XM_005259896.2:c.3336+32A>G	XP_005259953.1:n.3336+32A>G
XM_006722745.2:c.3207+32A>G	XP_006722808.1:n.3207+32A>G
XM_005259896.3:c.3336+32A>G	XP_005259953.1:n.3336+32A>G
NM_000215.4:c.3207+32A>G MANE Select	NP_000206.2:n.3207+32A>G