Canonical Allele Identifier: CA342534956

Gene: GATAD2B

Linked Data

• dbSNP Id: rs1229673982
• gnomAD v4: 1-153819631-T-C
• MyVariant Identifiers: chr1:g.153792107T>C (hg19) ; chr1:g.153819631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153819631T>C , CM000663.2:g.153819631T>C	GRCh38
NC_000001.10:g.153792107T>C , CM000663.1:g.153792107T>C	GRCh37
NC_000001.9:g.152058731T>C	NCBI36
NG_050988.1:g.108345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703630.1:c.17A>G	ENSP00000515408.1:p.Lys6Arg
ENST00000368655.5:c.440A>G MANE Select	ENSP00000357644.4:p.Lys147Arg
ENST00000368655.4:c.440A>G	ENSP00000357644.4:p.Lys147Arg
ENST00000634401.1:c.440A>G	ENSP00000489313.1:p.Lys147Arg
ENST00000634408.1:c.440A>G	ENSP00000489595.1:p.Lys147Arg
ENST00000634544.1:c.440A>G	ENSP00000489184.1:p.Lys147Arg
ENST00000634791.1:c.440A>G	ENSP00000489566.1:p.Lys147Arg
NM_020699.2:c.440A>G	NP_065750.1:p.Lys147Arg
XM_005245364.3:c.440A>G	XP_005245421.1:p.Lys147Arg
XM_006711469.2:c.440A>G	XP_006711532.1:p.Lys147Arg
XM_011509808.1:c.440A>G	XP_011508110.1:p.Lys147Arg
NM_020699.3:c.440A>G	NP_065750.1:p.Lys147Arg
XM_005245364.4:c.440A>G	XP_005245421.1:p.Lys147Arg
XM_024448621.1:c.440A>G	XP_024304389.1:p.Lys147Arg
NM_020699.4:c.440A>G MANE Select	NP_065750.1:p.Lys147Arg