Canonical Allele Identifier: CA632135985

Gene: JAK3

Linked Data

• dbSNP Id: rs1388157694
• gnomAD v2: 19-17954183-C-T
• gnomAD v4: 19-17843374-C-T
• MyVariant Identifiers: chr19:g.17954183C>T (hg19) ; chr19:g.17843374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843374C>T , CM000681.2:g.17843374C>T	GRCh38
NC_000019.9:g.17954183C>T , CM000681.1:g.17954183C>T	GRCh37
NC_000019.8:g.17815183C>T	NCBI36
NG_007273.1:g.9618G>A , LRG_77:g.9618G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.420+6G>A	ENSP00000513006.1:n.420+6G>A
ENST00000458235.7:c.420+6G>A MANE Select	ENSP00000391676.1:n.420+6G>A
ENST00000458235.5:c.420+6G>A	ENSP00000391676.1:n.420+6G>A
ENST00000526008.5:n.520+6G>A
ENST00000527031.5:n.510+6G>A
ENST00000527670.5:c.420+6G>A	ENSP00000432511.1:n.420+6G>A
ENST00000528293.1:n.435+6G>A
ENST00000534444.1:c.420+6G>A	ENSP00000436421.1:n.420+6G>A
NM_000215.3:c.420+6G>A , LRG_77t1:c.420+6G>A	NP_000206.2:n.420+6G>A
XM_005259896.2:c.549+6G>A	XP_005259953.1:n.549+6G>A
XM_006722745.2:c.420+6G>A	XP_006722808.1:n.420+6G>A
XM_011527990.1:c.549+6G>A	XP_011526292.1:n.549+6G>A
XM_011527991.1:c.549+6G>A	XP_011526293.1:n.549+6G>A
XR_430137.2:n.559+6G>A
XM_005259896.3:c.549+6G>A	XP_005259953.1:n.549+6G>A
XM_011527991.2:c.549+6G>A	XP_011526293.1:n.549+6G>A
NM_000215.4:c.420+6G>A MANE Select	NP_000206.2:n.420+6G>A