Canonical Allele Identifier: CA10404646

Gene: GATA1

Linked Data

• ClinVar Variation Id: 1606782
• ClinVar RCV Id: RCV002162510
• dbSNP Id: rs782282009
• ExAC: X:48650794 C / G
• gnomAD v2: X-48650794-C-G
• gnomAD v3: X-48792387-C-G
• gnomAD v4: X-48792387-C-G
• MyVariant Identifiers: chrX:g.48650794C>G (hg19) ; chrX:g.48792387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792387C>G , CM000685.2:g.48792387C>G	GRCh38
NC_000023.10:g.48650794C>G , CM000685.1:g.48650794C>G	GRCh37
NC_000023.9:g.48535738C>G	NCBI36
NG_008846.2:g.10814C>G , LRG_559:g.10814C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.414C>G	ENSP00000498550.1:p.Gly138=
ENST00000696450.1:c.663C>G	ENSP00000512637.1:p.Gly221=
ENST00000696451.1:c.414C>G	ENSP00000512638.1:p.Gly138=
ENST00000696452.1:c.414C>G	ENSP00000512639.1:p.Gly138=
ENST00000376670.9:c.663C>G MANE Select	ENSP00000365858.3:p.Gly221=
ENST00000651144.1:c.414C>G	ENSP00000498550.1:p.Gly138=
ENST00000376665.4:c.663C>G	ENSP00000365853.3:p.Gly221=
ENST00000376670.7:c.663C>G	ENSP00000365858.3:p.Gly221=
NM_002049.3:c.663C>G , LRG_559t1:c.663C>G	NP_002040.1:p.Gly221=
XM_011543897.1:c.663C>G	XP_011542199.1:p.Gly221=
XM_011543898.1:c.414C>G	XP_011542200.1:p.Gly138=
XM_011543897.2:c.663C>G	XP_011542199.1:p.Gly221=
XM_011543898.2:c.414C>G	XP_011542200.1:p.Gly138=
XM_024452363.1:c.414C>G	XP_024308131.1:p.Gly138=
NM_002049.4:c.663C>G MANE Select	NP_002040.1:p.Gly221=