Canonical Allele Identifier: CA2428390294

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791329G= , CM000685.2:g.48791329G=	GRCh38
NC_000023.10:g.48649736G= , CM000685.1:g.48649736G=	GRCh37
NC_000023.9:g.48534680G=	NCBI36
NG_008846.2:g.9756G= , LRG_559:g.9756G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.-29-515G=	ENSP00000498550.1:n.-29-515G=
ENST00000696450.1:c.220G=	ENSP00000512637.1:p.Val74=
ENST00000696451.1:c.-29-515G=	ENSP00000512638.1:n.-29-515G=
ENST00000696452.1:c.-29-515G=	ENSP00000512639.1:n.-29-515G=
ENST00000376670.9:c.220G= MANE Select	ENSP00000365858.3:p.Val74=
ENST00000651144.1:c.-29-515G=	ENSP00000498550.1:n.-29-515G=
ENST00000376665.4:c.220G=	ENSP00000365853.3:p.Val74=
ENST00000376670.7:c.220G=	ENSP00000365858.3:p.Val74=
NM_002049.3:c.220G= , LRG_559t1:c.220G=	NP_002040.1:p.Val74=
XM_011543897.1:c.220G=	XP_011542199.1:p.Val74=
XM_011543898.1:c.-29-515G=	XP_011542200.1:n.-29-515G=
XM_011543897.2:c.220G=	XP_011542199.1:p.Val74=
XM_011543898.2:c.-29-515G=	XP_011542200.1:n.-29-515G=
XM_024452363.1:c.-29-515G=	XP_024308131.1:n.-29-515G=
NM_002049.4:c.220G= MANE Select	NP_002040.1:p.Val74=