Canonical Allele Identifier: CA16616978
Gene: GATAD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 419723
ClinVar RCV Id: RCV000483788
dbSNP Id: rs1064794066
MyVariant Identifiers: chr1:g.153788992G>A (hg19) chr1:g.153816516G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153816516G>A , CM000663.2:g.153816516G>A GRCh38
NC_000001.10:g.153788992G>A , CM000663.1:g.153788992G>A GRCh37
NC_000001.9:g.152055616G>A NCBI36
NG_050988.1:g.111460C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703630.1:c.550C>T ENSP00000515408.1:p.Gln184Ter
ENST00000368655.5:c.973C>T MANE Select ENSP00000357644.4:p.Gln325Ter
ENST00000368655.4:c.973C>T ENSP00000357644.4:p.Gln325Ter
ENST00000634408.1:c.925C>T ENSP00000489595.1:p.Gln309Ter
ENST00000634544.1:c.973C>T ENSP00000489184.1:p.Gln325Ter
ENST00000634564.1:c.227C>T
NM_020699.2:c.973C>T NP_065750.1:p.Gln325Ter
XM_005245364.3:c.973C>T XP_005245421.1:p.Gln325Ter
XM_006711469.2:c.973C>T XP_006711532.1:p.Gln325Ter
XM_011509808.1:c.973C>T XP_011508110.1:p.Gln325Ter
NM_020699.3:c.973C>T NP_065750.1:p.Gln325Ter
XM_005245364.4:c.973C>T XP_005245421.1:p.Gln325Ter
XM_024448621.1:c.973C>T XP_024304389.1:p.Gln325Ter
NM_020699.4:c.973C>T MANE Select NP_065750.1:p.Gln325Ter
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