Canonical Allele Identifier: CA1120621

Gene: GATAD2B

Linked Data

• dbSNP Id: rs770073613
• ExAC: 1:153784465 A / G
• gnomAD v2: 1-153784465-A-G
• gnomAD v3: 1-153811989-A-G
• gnomAD v4: 1-153811989-A-G
• MyVariant Identifiers: chr1:g.153784465A>G (hg19) ; chr1:g.153811989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153811989A>G , CM000663.2:g.153811989A>G	GRCh38
NC_000001.10:g.153784465A>G , CM000663.1:g.153784465A>G	GRCh37
NC_000001.9:g.152051089A>G	NCBI36
NG_050988.1:g.115987T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368655.5:c.1530+33T>C MANE Select	ENSP00000357644.4:n.1530+33T>C
ENST00000637918.1:c.17+33T>C
ENST00000368655.4:c.1530+33T>C	ENSP00000357644.4:n.1530+33T>C
ENST00000634408.1:c.1482+33T>C	ENSP00000489595.1:n.1482+33T>C
ENST00000634544.1:c.1530+33T>C	ENSP00000489184.1:n.1530+33T>C
ENST00000634564.1:c.784+33T>C
ENST00000634645.1:n.254+33T>C
NM_020699.2:c.1530+33T>C	NP_065750.1:n.1530+33T>C
XM_005245364.3:c.1530+33T>C	XP_005245421.1:n.1530+33T>C
XM_006711469.2:c.1530+33T>C	XP_006711532.1:n.1530+33T>C
XM_011509808.1:c.1530+33T>C	XP_011508110.1:n.1530+33T>C
NM_020699.3:c.1530+33T>C	NP_065750.1:n.1530+33T>C
XM_005245364.4:c.1530+33T>C	XP_005245421.1:n.1530+33T>C
XM_024448621.1:c.1530+33T>C	XP_024304389.1:n.1530+33T>C
NM_020699.4:c.1530+33T>C MANE Select	NP_065750.1:n.1530+33T>C