Canonical Allele Identifier: CA2428390653

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792371G= , CM000685.2:g.48792371G=	GRCh38
NC_000023.10:g.48650778G= , CM000685.1:g.48650778G=	GRCh37
NC_000023.9:g.48535722G=	NCBI36
NG_008846.2:g.10798G= , LRG_559:g.10798G=

Transcript Alleles

HGVS	Amino-acid Change
NM_002049.4:c.647G= MANE Select	NP_002040.1:p.Arg216=
ENST00000376670.9:c.647G= MANE Select	ENSP00000365858.3:p.Arg216=
NM_002049.3:c.647G= , LRG_559t1:c.647G=	NP_002040.1:p.Arg216=
ENST00000376665.4:c.647G=	ENSP00000365853.3:p.Arg216=
ENST00000376670.7:c.647G=	ENSP00000365858.3:p.Arg216=
ENST00000651144.1:c.398G=	ENSP00000498550.1:p.Arg133=
ENST00000651144.2:c.398G=	ENSP00000498550.1:p.Arg133=
ENST00000696450.1:c.647G=	ENSP00000512637.1:p.Arg216=
ENST00000696451.1:c.398G=	ENSP00000512638.1:p.Arg133=
ENST00000696452.1:c.398G=	ENSP00000512639.1:p.Arg133=
XM_011543897.1:c.647G=	XP_011542199.1:p.Arg216=
XM_011543897.2:c.647G=	XP_011542199.1:p.Arg216=
XM_011543898.1:c.398G=	XP_011542200.1:p.Arg133=
XM_011543898.2:c.398G=	XP_011542200.1:p.Arg133=
XM_024452363.1:c.398G=	XP_024308131.1:p.Arg133=