Canonical Allele Identifier: CA2428390603

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792218T= , CM000685.2:g.48792218T=	GRCh38
NC_000023.10:g.48650625T= , CM000685.1:g.48650625T=	GRCh37
NC_000023.9:g.48535569T=	NCBI36
NG_008846.2:g.10645T= , LRG_559:g.10645T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.346T=	ENSP00000498550.1:p.Cys116=
ENST00000696450.1:c.595T=	ENSP00000512637.1:p.Cys199=
ENST00000696451.1:c.346T=	ENSP00000512638.1:p.Cys116=
ENST00000696452.1:c.346T=	ENSP00000512639.1:p.Cys116=
ENST00000376670.9:c.595T= MANE Select	ENSP00000365858.3:p.Cys199=
ENST00000651144.1:c.346T=	ENSP00000498550.1:p.Cys116=
ENST00000376665.4:c.595T=	ENSP00000365853.3:p.Cys199=
ENST00000376670.7:c.595T=	ENSP00000365858.3:p.Cys199=
NM_002049.3:c.595T= , LRG_559t1:c.595T=	NP_002040.1:p.Cys199=
XM_011543897.1:c.595T=	XP_011542199.1:p.Cys199=
XM_011543898.1:c.346T=	XP_011542200.1:p.Cys116=
XM_011543897.2:c.595T=	XP_011542199.1:p.Cys199=
XM_011543898.2:c.346T=	XP_011542200.1:p.Cys116=
XM_024452363.1:c.346T=	XP_024308131.1:p.Cys116=
NM_002049.4:c.595T= MANE Select	NP_002040.1:p.Cys199=