Canonical Allele Identifier: CA412867320

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791331T>C , CM000685.2:g.48791331T>C	GRCh38
NC_000023.10:g.48649738T>C , CM000685.1:g.48649738T>C	GRCh37
NC_000023.9:g.48534682T>C	NCBI36
NG_008846.2:g.9758T>C , LRG_559:g.9758T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002049.4:c.220+2T>C MANE Select	NP_002040.1:n.220+2T>C
ENST00000376670.9:c.220+2T>C MANE Select	ENSP00000365858.3:n.220+2T>C
NM_002049.3:c.220+2T>C , LRG_559t1:c.220+2T>C	NP_002040.1:n.220+2T>C
ENST00000376665.4:c.220+2T>C	ENSP00000365853.3:n.220+2T>C
ENST00000376670.7:c.220+2T>C	ENSP00000365858.3:n.220+2T>C
ENST00000651144.1:c.-29-513T>C	ENSP00000498550.1:n.-29-513T>C
ENST00000651144.2:c.-29-513T>C	ENSP00000498550.1:n.-29-513T>C
ENST00000696450.1:c.220+2T>C	ENSP00000512637.1:n.220+2T>C
ENST00000696451.1:c.-29-513T>C	ENSP00000512638.1:n.-29-513T>C
ENST00000696452.1:c.-29-513T>C	ENSP00000512639.1:n.-29-513T>C
XM_011543897.1:c.220+2T>C	XP_011542199.1:n.220+2T>C
XM_011543897.2:c.220+2T>C	XP_011542199.1:n.220+2T>C
XM_011543898.1:c.-29-513T>C	XP_011542200.1:n.-29-513T>C
XM_011543898.2:c.-29-513T>C	XP_011542200.1:n.-29-513T>C
XM_024452363.1:c.-29-513T>C	XP_024308131.1:n.-29-513T>C