Canonical Allele Identifier: CA404773597

Gene: JAK3

Linked Data

• dbSNP Id: rs1358761917
• gnomAD v2: 19-17954221-C-G
• gnomAD v4: 19-17843412-C-G
• MyVariant Identifiers: chr19:g.17954221C>G (hg19) ; chr19:g.17843412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843412C>G , CM000681.2:g.17843412C>G	GRCh38
NC_000019.9:g.17954221C>G , CM000681.1:g.17954221C>G	GRCh37
NC_000019.8:g.17815221C>G	NCBI36
NG_007273.1:g.9580G>C , LRG_77:g.9580G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.388G>C	ENSP00000513006.1:p.Asp130His
ENST00000458235.7:c.388G>C MANE Select	ENSP00000391676.1:p.Asp130His
ENST00000458235.5:c.388G>C	ENSP00000391676.1:p.Asp130His
ENST00000526008.5:n.488G>C
ENST00000527031.5:n.478G>C
ENST00000527670.5:c.388G>C	ENSP00000432511.1:p.Asp130His
ENST00000528293.1:n.403G>C
ENST00000534444.1:c.388G>C	ENSP00000436421.1:p.Asp130His
NM_000215.3:c.388G>C , LRG_77t1:c.388G>C	NP_000206.2:p.Asp130His
XM_005259896.2:c.517G>C	XP_005259953.1:p.Asp173His
XM_006722745.2:c.388G>C	XP_006722808.1:p.Asp130His
XM_011527990.1:c.517G>C	XP_011526292.1:p.Asp173His
XM_011527991.1:c.517G>C	XP_011526293.1:p.Asp173His
XR_430137.2:n.527G>C
XM_005259896.3:c.517G>C	XP_005259953.1:p.Asp173His
XM_011527991.2:c.517G>C	XP_011526293.1:p.Asp173His
NM_000215.4:c.388G>C MANE Select	NP_000206.2:p.Asp130His