Canonical Allele Identifier: CA2428390626
Gene: GATA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48792301C= , CM000685.2:g.48792301C= GRCh38
NC_000023.10:g.48650708C= , CM000685.1:g.48650708C= GRCh37
NC_000023.9:g.48535652C= NCBI36
NG_008846.2:g.10728C= , LRG_559:g.10728C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651144.2:c.350-22C= ENSP00000498550.1:n.350-22C=
ENST00000696450.1:c.599-22C= ENSP00000512637.1:n.599-22C=
ENST00000696451.1:c.350-22C= ENSP00000512638.1:n.350-22C=
ENST00000696452.1:c.350-22C= ENSP00000512639.1:n.350-22C=
ENST00000376670.9:c.599-22C= MANE Select ENSP00000365858.3:n.599-22C=
ENST00000651144.1:c.350-22C= ENSP00000498550.1:n.350-22C=
ENST00000376665.4:c.599-22C= ENSP00000365853.3:n.599-22C=
ENST00000376670.7:c.599-22C= ENSP00000365858.3:n.599-22C=
NM_002049.3:c.599-22C= , LRG_559t1:c.599-22C= NP_002040.1:n.599-22C=
XM_011543897.1:c.599-22C= XP_011542199.1:n.599-22C=
XM_011543898.1:c.350-22C= XP_011542200.1:n.350-22C=
XM_011543897.2:c.599-22C= XP_011542199.1:n.599-22C=
XM_011543898.2:c.350-22C= XP_011542200.1:n.350-22C=
XM_024452363.1:c.350-22C= XP_024308131.1:n.350-22C=
NM_002049.4:c.599-22C= MANE Select NP_002040.1:n.599-22C=