Canonical Allele Identifier: CA516358085

Gene: GATA1

Linked Data

• ClinVar Variation Id: 1617980
• ClinVar RCV Id: RCV002079630
• dbSNP Id: rs2147306665
• gnomAD v4: X-48792184-T-C
• MyVariant Identifiers: chrX:g.48650591T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792184T>C , CM000685.2:g.48792184T>C	GRCh38
NC_000023.10:g.48650591T>C , CM000685.1:g.48650591T>C	GRCh37
NC_000023.9:g.48535535T>C	NCBI36
NG_008846.2:g.10611T>C , LRG_559:g.10611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.312T>C	ENSP00000498550.1:p.Ser104=
ENST00000696450.1:c.561T>C	ENSP00000512637.1:p.Ser187=
ENST00000696451.1:c.312T>C	ENSP00000512638.1:p.Ser104=
ENST00000696452.1:c.312T>C	ENSP00000512639.1:p.Ser104=
ENST00000376670.9:c.561T>C MANE Select	ENSP00000365858.3:p.Ser187=
ENST00000651144.1:c.312T>C	ENSP00000498550.1:p.Ser104=
ENST00000376665.4:c.561T>C	ENSP00000365853.3:p.Ser187=
ENST00000376670.7:c.561T>C	ENSP00000365858.3:p.Ser187=
NM_002049.3:c.561T>C , LRG_559t1:c.561T>C	NP_002040.1:p.Ser187=
XM_011543897.1:c.561T>C	XP_011542199.1:p.Ser187=
XM_011543898.1:c.312T>C	XP_011542200.1:p.Ser104=
XM_011543897.2:c.561T>C	XP_011542199.1:p.Ser187=
XM_011543898.2:c.312T>C	XP_011542200.1:p.Ser104=
XM_024452363.1:c.312T>C	XP_024308131.1:p.Ser104=
NM_002049.4:c.561T>C MANE Select	NP_002040.1:p.Ser187=