Canonical Allele Identifier: CA30710998

Gene: GATAD2B

Linked Data

• ClinVar Variation Id: 3021637
• ClinVar RCV Id: RCV003880220
• dbSNP Id: rs139746825
• gnomAD v3: 1-153819695-T-C
• gnomAD v4: 1-153819695-T-C
• MyVariant Identifiers: chr1:g.153792171T>C (hg19) ; chr1:g.153819695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153819695T>C , CM000663.2:g.153819695T>C	GRCh38
NC_000001.10:g.153792171T>C , CM000663.1:g.153792171T>C	GRCh37
NC_000001.9:g.152058795T>C	NCBI36
NG_050988.1:g.108281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703630.1:c.-48A>G	ENSP00000515408.1:n.-48A>G
ENST00000368655.5:c.376A>G MANE Select	ENSP00000357644.4:p.Ile126Val
ENST00000638051.1:n.94A>G
ENST00000368655.4:c.376A>G	ENSP00000357644.4:p.Ile126Val
ENST00000634401.1:c.376A>G	ENSP00000489313.1:p.Ile126Val
ENST00000634408.1:c.376A>G	ENSP00000489595.1:p.Ile126Val
ENST00000634544.1:c.376A>G	ENSP00000489184.1:p.Ile126Val
ENST00000634791.1:c.376A>G	ENSP00000489566.1:p.Ile126Val
NM_020699.2:c.376A>G	NP_065750.1:p.Ile126Val
XM_005245364.3:c.376A>G	XP_005245421.1:p.Ile126Val
XM_006711469.2:c.376A>G	XP_006711532.1:p.Ile126Val
XM_011509808.1:c.376A>G	XP_011508110.1:p.Ile126Val
NM_020699.3:c.376A>G	NP_065750.1:p.Ile126Val
XM_005245364.4:c.376A>G	XP_005245421.1:p.Ile126Val
XM_024448621.1:c.376A>G	XP_024304389.1:p.Ile126Val
NM_020699.4:c.376A>G MANE Select	NP_065750.1:p.Ile126Val