Canonical Allele Identifier: CA632136026
Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2805708
ClinVar RCV Id: RCV003622516
dbSNP Id: rs201379612
gnomAD v2: 19-17937728-C-A
gnomAD v4: 19-17826919-C-A
MyVariant Identifiers: chr19:g.17937728C>A (hg19) chr19:g.17826919C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826919C>A , CM000681.2:g.17826919C>A GRCh38
NC_000019.9:g.17937728C>A , CM000681.1:g.17937728C>A GRCh37
NC_000019.8:g.17798728C>A NCBI36
NG_007273.1:g.26073G>T , LRG_77:g.26073G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-9G>T ENSP00000513006.1:n.*1765-9G>T
ENST00000696967.1:n.2385-9G>T
ENST00000696968.1:n.441-9G>T
ENST00000696969.1:n.2165-9G>T
ENST00000458235.7:c.3208-9G>T MANE Select ENSP00000391676.1:n.3208-9G>T
ENST00000458235.5:c.3208-9G>T ENSP00000391676.1:n.3208-9G>T
ENST00000527031.5:n.2279-1609G>T
ENST00000527670.5:c.3208-9G>T ENSP00000432511.1:n.3208-9G>T
NM_000215.3:c.3208-9G>T , LRG_77t1:c.3208-9G>T NP_000206.2:n.3208-9G>T
XM_005259896.2:c.3337-9G>T XP_005259953.1:n.3337-9G>T
XM_006722745.2:c.3208-9G>T XP_006722808.1:n.3208-9G>T
XM_005259896.3:c.3337-9G>T XP_005259953.1:n.3337-9G>T
NM_000215.4:c.3208-9G>T MANE Select NP_000206.2:n.3208-9G>T
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