Canonical Allele Identifier: CA16043284

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48793841C>T , CM000685.2:g.48793841C>T	GRCh38
NC_000023.10:g.48652248C>T , CM000685.1:g.48652248C>T	GRCh37
NC_000023.9:g.48537192C>T	NCBI36
NG_008846.2:g.12268C>T , LRG_559:g.12268C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002049.4:c.919C>T MANE Select	NP_002040.1:p.Arg307Cys
ENST00000376670.9:c.919C>T MANE Select	ENSP00000365858.3:p.Arg307Cys
NM_002049.3:c.919C>T , LRG_559t1:c.919C>T	NP_002040.1:p.Arg307Cys
ENST00000376665.4:c.871-293C>T	ENSP00000365853.3:n.871-293C>T
ENST00000376670.7:c.919C>T	ENSP00000365858.3:p.Arg307Cys
ENST00000651144.1:c.670C>T	ENSP00000498550.1:p.Arg224Cys
ENST00000651144.2:c.670C>T	ENSP00000498550.1:p.Arg224Cys
ENST00000696450.1:c.934C>T	ENSP00000512637.1:p.Arg312Cys
ENST00000696451.1:c.685C>T	ENSP00000512638.1:p.Arg229Cys
ENST00000696452.1:c.709C>T	ENSP00000512639.1:p.Arg237Cys
XM_011543897.1:c.934C>T	XP_011542199.1:p.Arg312Cys
XM_011543897.2:c.934C>T	XP_011542199.1:p.Arg312Cys
XM_011543898.1:c.685C>T	XP_011542200.1:p.Arg229Cys
XM_011543898.2:c.685C>T	XP_011542200.1:p.Arg229Cys
XM_024452363.1:c.670C>T	XP_024308131.1:p.Arg224Cys