Canonical Allele Identifier: CA10404680

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48793866A>G , CM000685.2:g.48793866A>G	GRCh38
NC_000023.10:g.48652273A>G , CM000685.1:g.48652273A>G	GRCh37
NC_000023.9:g.48537217A>G	NCBI36
NG_008846.2:g.12293A>G , LRG_559:g.12293A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002049.4:c.944A>G MANE Select	NP_002040.1:p.Lys315Arg
ENST00000376670.9:c.944A>G MANE Select	ENSP00000365858.3:p.Lys315Arg
NM_002049.3:c.944A>G , LRG_559t1:c.944A>G	NP_002040.1:p.Lys315Arg
ENST00000376665.4:c.871-268A>G	ENSP00000365853.3:n.871-268A>G
ENST00000376670.7:c.944A>G	ENSP00000365858.3:p.Lys315Arg
ENST00000651144.1:c.695A>G	ENSP00000498550.1:p.Lys232Arg
ENST00000651144.2:c.695A>G	ENSP00000498550.1:p.Lys232Arg
ENST00000696450.1:c.959A>G	ENSP00000512637.1:p.Lys320Arg
ENST00000696451.1:c.710A>G	ENSP00000512638.1:p.Lys237Arg
ENST00000696452.1:c.734A>G	ENSP00000512639.1:p.Lys245Arg
XM_011543897.1:c.959A>G	XP_011542199.1:p.Lys320Arg
XM_011543897.2:c.959A>G	XP_011542199.1:p.Lys320Arg
XM_011543898.1:c.710A>G	XP_011542200.1:p.Lys237Arg
XM_011543898.2:c.710A>G	XP_011542200.1:p.Lys237Arg
XM_024452363.1:c.695A>G	XP_024308131.1:p.Lys232Arg