Canonical Allele Identifier: CA9301800

Gene: JAK3

Linked Data

• dbSNP Id: rs199600889
• ExAC: 19:17947971 C / G
• gnomAD v2: 19-17947971-C-G
• gnomAD v3: 19-17837162-C-G
• gnomAD v4: 19-17837162-C-G
• MyVariant Identifiers: chr19:g.17947971C>G (hg19) ; chr19:g.17837162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837162C>G , CM000681.2:g.17837162C>G	GRCh38
NC_000019.9:g.17947971C>G , CM000681.1:g.17947971C>G	GRCh37
NC_000019.8:g.17808971C>G	NCBI36
NG_007273.1:g.15830G>C , LRG_77:g.15830G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*310G>C	ENSP00000513006.1:n.*310G>C
ENST00000696967.1:n.930G>C
ENST00000696970.1:n.408G>C
ENST00000458235.7:c.1753G>C MANE Select	ENSP00000391676.1:p.Val585Leu
ENST00000458235.5:c.1753G>C	ENSP00000391676.1:p.Val585Leu
ENST00000527031.5:n.1843G>C
ENST00000527670.5:c.1753G>C	ENSP00000432511.1:p.Val585Leu
ENST00000534444.1:c.1753G>C	ENSP00000436421.1:p.Val585Leu
NM_000215.3:c.1753G>C , LRG_77t1:c.1753G>C	NP_000206.2:p.Val585Leu
XM_005259896.2:c.1882G>C	XP_005259953.1:p.Val628Leu
XM_006722745.2:c.1753G>C	XP_006722808.1:p.Val585Leu
XM_011527990.1:c.1882G>C	XP_011526292.1:p.Val628Leu
XM_011527991.1:c.1882G>C	XP_011526293.1:p.Val628Leu
XR_430137.2:n.1892G>C
XM_005259896.3:c.1882G>C	XP_005259953.1:p.Val628Leu
XM_011527991.2:c.1882G>C	XP_011526293.1:p.Val628Leu
NM_000215.4:c.1753G>C MANE Select	NP_000206.2:p.Val585Leu