Canonical Allele Identifier: CA632066083

Gene: JAK3

Linked Data

• dbSNP Id: rs1347437166
• gnomAD v2: 19-17940848-A-G
• gnomAD v3: 19-17830039-A-G
• gnomAD v4: 19-17830039-A-G
• MyVariant Identifiers: chr19:g.17940848A>G (hg19) ; chr19:g.17830039A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830039A>G , CM000681.2:g.17830039A>G	GRCh38
NC_000019.9:g.17940848A>G , CM000681.1:g.17940848A>G	GRCh37
NC_000019.8:g.17801848A>G	NCBI36
NG_007273.1:g.22953T>C , LRG_77:g.22953T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*1764+69T>C	ENSP00000513006.1:n.*1764+69T>C
ENST00000696967.1:n.2384+69T>C
ENST00000696968.1:n.440+69T>C
ENST00000696969.1:n.2164+69T>C
ENST00000458235.7:c.3207+69T>C MANE Select	ENSP00000391676.1:n.3207+69T>C
ENST00000458235.5:c.3207+69T>C	ENSP00000391676.1:n.3207+69T>C
ENST00000527031.5:n.2279-4729T>C
ENST00000527670.5:c.3207+69T>C	ENSP00000432511.1:n.3207+69T>C
ENST00000534444.1:c.3276T>C	ENSP00000436421.1:p.Ala1092=
NM_000215.3:c.3207+69T>C , LRG_77t1:c.3207+69T>C	NP_000206.2:n.3207+69T>C
XM_005259896.2:c.3336+69T>C	XP_005259953.1:n.3336+69T>C
XM_006722745.2:c.3207+69T>C	XP_006722808.1:n.3207+69T>C
XM_005259896.3:c.3336+69T>C	XP_005259953.1:n.3336+69T>C
NM_000215.4:c.3207+69T>C MANE Select	NP_000206.2:n.3207+69T>C