Canonical Allele Identifier: CA506106094

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2920240
• ClinVar RCV Id: RCV003622405
• dbSNP Id: rs761971689
• gnomAD v3: 19-17843071-C-G
• gnomAD v4: 19-17843071-C-G
• MyVariant Identifiers: chr19:g.17953880C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843071C>G , CM000681.2:g.17843071C>G	GRCh38
NC_000019.9:g.17953880C>G , CM000681.1:g.17953880C>G	GRCh37
NC_000019.8:g.17814880C>G	NCBI36
NG_007273.1:g.9921G>C , LRG_77:g.9921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.522G>C	ENSP00000513006.1:p.Ala174=
ENST00000458235.7:c.522G>C MANE Select	ENSP00000391676.1:p.Ala174=
ENST00000458235.5:c.522G>C	ENSP00000391676.1:p.Ala174=
ENST00000526008.5:n.622G>C
ENST00000527031.5:n.612G>C
ENST00000527670.5:c.522G>C	ENSP00000432511.1:p.Ala174=
ENST00000528293.1:n.537G>C
ENST00000534444.1:c.522G>C	ENSP00000436421.1:p.Ala174=
NM_000215.3:c.522G>C , LRG_77t1:c.522G>C	NP_000206.2:p.Ala174=
XM_005259896.2:c.651G>C	XP_005259953.1:p.Ala217=
XM_006722745.2:c.522G>C	XP_006722808.1:p.Ala174=
XM_011527990.1:c.651G>C	XP_011526292.1:p.Ala217=
XM_011527991.1:c.651G>C	XP_011526293.1:p.Ala217=
XR_430137.2:n.661G>C
XM_005259896.3:c.651G>C	XP_005259953.1:p.Ala217=
XM_011527991.2:c.651G>C	XP_011526293.1:p.Ala217=
NM_000215.4:c.522G>C MANE Select	NP_000206.2:p.Ala174=