Canonical Allele Identifier: CA30744580

Gene: GATAD2B

Linked Data

• dbSNP Id: rs550527995
• gnomAD v3: 1-153796867-C-T
• gnomAD v4: 1-153796867-C-T
• MyVariant Identifiers: chr1:g.153769343C>T (hg19) ; chr1:g.153796867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153796867C>T , CM000663.2:g.153796867C>T	GRCh38
NC_000001.10:g.153769343C>T , CM000663.1:g.153769343C>T	GRCh37
NC_000001.9:g.152035967C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000637918.1:c.136-6791G>A
ENST00000427283.1:n.819+302C>T
XM_017003084.2:c.53+304C>T	XP_016858573.1:n.53+304C>T
XM_017003085.2:c.53+304C>T	XP_016858574.1:n.53+304C>T