Canonical Allele Identifier: CA506002817

Gene: JAK3

Linked Data

• MyVariant Identifiers: chr19:g.17940932A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830123A>C , CM000681.2:g.17830123A>C	GRCh38
NC_000019.9:g.17940932A>C , CM000681.1:g.17940932A>C	GRCh37
NC_000019.8:g.17801932A>C	NCBI36
NG_007273.1:g.22869T>G , LRG_77:g.22869T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1749T>G	ENSP00000513006.1:n.*1749T>G
ENST00000696967.1:n.2369T>G
ENST00000696968.1:n.425T>G
ENST00000696969.1:n.2149T>G
ENST00000458235.7:c.3192T>G MANE Select	ENSP00000391676.1:p.Pro1064=
ENST00000458235.5:c.3192T>G	ENSP00000391676.1:p.Pro1064=
ENST00000527031.5:n.2279-4813T>G
ENST00000527670.5:c.3192T>G	ENSP00000432511.1:p.Pro1064=
ENST00000534444.1:c.3192T>G	ENSP00000436421.1:p.Pro1064=
NM_000215.3:c.3192T>G , LRG_77t1:c.3192T>G	NP_000206.2:p.Pro1064=
XM_005259896.2:c.3321T>G	XP_005259953.1:p.Pro1107=
XM_006722745.2:c.3192T>G	XP_006722808.1:p.Pro1064=
XM_005259896.3:c.3321T>G	XP_005259953.1:p.Pro1107=
NM_000215.4:c.3192T>G MANE Select	NP_000206.2:p.Pro1064=