Canonical Allele Identifier: CA516357849

Gene: GATA1

Linked Data

• ClinVar Variation Id: 1595330
• ClinVar RCV Id: RCV002115570
• dbSNP Id: rs1204529779
• gnomAD v2: X-48650842-G-A
• gnomAD v4: X-48792435-G-A
• MyVariant Identifiers: chrX:g.48650842G>A (hg19) ; chrX:g.48792435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792435G>A , CM000685.2:g.48792435G>A	GRCh38
NC_000023.10:g.48650842G>A , CM000685.1:g.48650842G>A	GRCh37
NC_000023.9:g.48535786G>A	NCBI36
NG_008846.2:g.10862G>A , LRG_559:g.10862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.462G>A	ENSP00000498550.1:p.Gln154=
ENST00000696450.1:c.711G>A	ENSP00000512637.1:p.Gln237=
ENST00000696451.1:c.462G>A	ENSP00000512638.1:p.Gln154=
ENST00000696452.1:c.462G>A	ENSP00000512639.1:p.Gln154=
ENST00000376670.9:c.711G>A MANE Select	ENSP00000365858.3:p.Gln237=
ENST00000651144.1:c.462G>A	ENSP00000498550.1:p.Gln154=
ENST00000376665.4:c.711G>A	ENSP00000365853.3:p.Gln237=
ENST00000376670.7:c.711G>A	ENSP00000365858.3:p.Gln237=
NM_002049.3:c.711G>A , LRG_559t1:c.711G>A	NP_002040.1:p.Gln237=
XM_011543897.1:c.711G>A	XP_011542199.1:p.Gln237=
XM_011543898.1:c.462G>A	XP_011542200.1:p.Gln154=
XM_011543897.2:c.711G>A	XP_011542199.1:p.Gln237=
XM_011543898.2:c.462G>A	XP_011542200.1:p.Gln154=
XM_024452363.1:c.462G>A	XP_024308131.1:p.Gln154=
NM_002049.4:c.711G>A MANE Select	NP_002040.1:p.Gln237=