Canonical Allele Identifier: CA342535682

Gene: GATAD2B

Linked Data

• ClinVar Variation Id: 2001158
• ClinVar RCV Id: RCV002810969
• gnomAD v4: 1-153819694-A-G
• MyVariant Identifiers: chr1:g.153792170A>G (hg19) ; chr1:g.153819694A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153819694A>G , CM000663.2:g.153819694A>G	GRCh38
NC_000001.10:g.153792170A>G , CM000663.1:g.153792170A>G	GRCh37
NC_000001.9:g.152058794A>G	NCBI36
NG_050988.1:g.108282T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703630.1:c.-47T>C	ENSP00000515408.1:n.-47T>C
ENST00000368655.5:c.377T>C MANE Select	ENSP00000357644.4:p.Ile126Thr
ENST00000638051.1:n.95T>C
ENST00000368655.4:c.377T>C	ENSP00000357644.4:p.Ile126Thr
ENST00000634401.1:c.377T>C	ENSP00000489313.1:p.Ile126Thr
ENST00000634408.1:c.377T>C	ENSP00000489595.1:p.Ile126Thr
ENST00000634544.1:c.377T>C	ENSP00000489184.1:p.Ile126Thr
ENST00000634791.1:c.377T>C	ENSP00000489566.1:p.Ile126Thr
NM_020699.2:c.377T>C	NP_065750.1:p.Ile126Thr
XM_005245364.3:c.377T>C	XP_005245421.1:p.Ile126Thr
XM_006711469.2:c.377T>C	XP_006711532.1:p.Ile126Thr
XM_011509808.1:c.377T>C	XP_011508110.1:p.Ile126Thr
NM_020699.3:c.377T>C	NP_065750.1:p.Ile126Thr
XM_005245364.4:c.377T>C	XP_005245421.1:p.Ile126Thr
XM_024448621.1:c.377T>C	XP_024304389.1:p.Ile126Thr
NM_020699.4:c.377T>C MANE Select	NP_065750.1:p.Ile126Thr