Canonical Allele Identifier: CA412870379

Gene: GATA1

Linked Data

• COSMIC: COSM6436212 ; COSM6436213
• MyVariant Identifiers: chrX:g.48650736G>T (hg19) ; chrX:g.48792329G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792329G>T , CM000685.2:g.48792329G>T	GRCh38
NC_000023.10:g.48650736G>T , CM000685.1:g.48650736G>T	GRCh37
NC_000023.9:g.48535680G>T	NCBI36
NG_008846.2:g.10756G>T , LRG_559:g.10756G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.356G>T	ENSP00000498550.1:p.Arg119Met
ENST00000696450.1:c.605G>T	ENSP00000512637.1:p.Arg202Met
ENST00000696451.1:c.356G>T	ENSP00000512638.1:p.Arg119Met
ENST00000696452.1:c.356G>T	ENSP00000512639.1:p.Arg119Met
ENST00000376670.9:c.605G>T MANE Select	ENSP00000365858.3:p.Arg202Met
ENST00000651144.1:c.356G>T	ENSP00000498550.1:p.Arg119Met
ENST00000376665.4:c.605G>T	ENSP00000365853.3:p.Arg202Met
ENST00000376670.7:c.605G>T	ENSP00000365858.3:p.Arg202Met
NM_002049.3:c.605G>T , LRG_559t1:c.605G>T	NP_002040.1:p.Arg202Met
XM_011543897.1:c.605G>T	XP_011542199.1:p.Arg202Met
XM_011543898.1:c.356G>T	XP_011542200.1:p.Arg119Met
XM_011543897.2:c.605G>T	XP_011542199.1:p.Arg202Met
XM_011543898.2:c.356G>T	XP_011542200.1:p.Arg119Met
XM_024452363.1:c.356G>T	XP_024308131.1:p.Arg119Met
NM_002049.4:c.605G>T MANE Select	NP_002040.1:p.Arg202Met