Canonical Allele Identifier: CA2428391218

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48794162T= , CM000685.2:g.48794162T=	GRCh38
NC_000023.10:g.48652569T= , CM000685.1:g.48652569T=	GRCh37
NC_000023.9:g.48537513T=	NCBI36
NG_008846.2:g.12589T= , LRG_559:g.12589T=

Transcript Alleles

HGVS	Amino-acid Change
NM_002049.4:c.1240T= MANE Select	NP_002040.1:p.Ter414=
ENST00000376670.9:c.1240T= MANE Select	ENSP00000365858.3:p.Ter414=
NM_002049.3:c.1240T= , LRG_559t1:c.1240T=	NP_002040.1:p.Ter414=
ENST00000376665.4:c.899T=	ENSP00000365853.3:p.Met300=
ENST00000376670.7:c.1240T=	ENSP00000365858.3:p.Ter414=
ENST00000651144.1:c.991T=	ENSP00000498550.1:p.Ter331=
ENST00000651144.2:c.991T=	ENSP00000498550.1:p.Ter331=
ENST00000696450.1:c.1255T=	ENSP00000512637.1:p.Ter419=
ENST00000696451.1:c.1006T=	ENSP00000512638.1:p.Ter336=
ENST00000696452.1:c.1030T=	ENSP00000512639.1:p.Ter344=
XM_011543897.1:c.1255T=	XP_011542199.1:p.Ter419=
XM_011543897.2:c.1255T=	XP_011542199.1:p.Ter419=
XM_011543898.1:c.1006T=	XP_011542200.1:p.Ter336=
XM_011543898.2:c.1006T=	XP_011542200.1:p.Ter336=
XM_024452363.1:c.991T=	XP_024308131.1:p.Ter331=