Canonical Allele Identifier: CA342523632

Gene: GATAD2B

Linked Data

• ClinVar Variation Id: 983278
• ClinVar RCV Id: RCV001263166
• dbSNP Id: rs1674353634
• MyVariant Identifiers: chr1:g.153785728G>A (hg19) ; chr1:g.153813252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153813252G>A , CM000663.2:g.153813252G>A	GRCh38
NC_000001.10:g.153785728G>A , CM000663.1:g.153785728G>A	GRCh37
NC_000001.9:g.152052352G>A	NCBI36
NG_050988.1:g.114724C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368655.5:c.1417C>T MANE Select	ENSP00000357644.4:p.Gln473Ter
ENST00000368655.4:c.1417C>T	ENSP00000357644.4:p.Gln473Ter
ENST00000634408.1:c.1369C>T	ENSP00000489595.1:p.Gln457Ter
ENST00000634544.1:c.1417C>T	ENSP00000489184.1:p.Gln473Ter
ENST00000634564.1:c.671C>T
NM_020699.2:c.1417C>T	NP_065750.1:p.Gln473Ter
XM_005245364.3:c.1417C>T	XP_005245421.1:p.Gln473Ter
XM_006711469.2:c.1417C>T	XP_006711532.1:p.Gln473Ter
XM_011509808.1:c.1417C>T	XP_011508110.1:p.Gln473Ter
NM_020699.3:c.1417C>T	NP_065750.1:p.Gln473Ter
XM_005245364.4:c.1417C>T	XP_005245421.1:p.Gln473Ter
XM_024448621.1:c.1417C>T	XP_024304389.1:p.Gln473Ter
NM_020699.4:c.1417C>T MANE Select	NP_065750.1:p.Gln473Ter