Canonical Allele Identifier: CA2581373766
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826949-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826949C>G , CM000681.2:g.17826949C>G GRCh38
NC_000019.9:g.17937758C>G , CM000681.1:g.17937758C>G GRCh37
NC_000019.8:g.17798758C>G NCBI36
NG_007273.1:g.26043G>C , LRG_77:g.26043G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-39G>C ENSP00000513006.1:n.*1765-39G>C
ENST00000696967.1:n.2385-39G>C
ENST00000696968.1:n.441-39G>C
ENST00000696969.1:n.2165-39G>C
ENST00000458235.7:c.3208-39G>C MANE Select ENSP00000391676.1:n.3208-39G>C
ENST00000458235.5:c.3208-39G>C ENSP00000391676.1:n.3208-39G>C
ENST00000527031.5:n.2279-1639G>C
ENST00000527670.5:c.3208-39G>C ENSP00000432511.1:n.3208-39G>C
NM_000215.3:c.3208-39G>C , LRG_77t1:c.3208-39G>C NP_000206.2:n.3208-39G>C
XM_005259896.2:c.3337-39G>C XP_005259953.1:n.3337-39G>C
XM_006722745.2:c.3208-39G>C XP_006722808.1:n.3208-39G>C
XM_005259896.3:c.3337-39G>C XP_005259953.1:n.3337-39G>C
NM_000215.4:c.3208-39G>C MANE Select NP_000206.2:n.3208-39G>C
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