Canonical Allele Identifier: CA2428391127
Gene: GATA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48793916G= , CM000685.2:g.48793916G= GRCh38
NC_000023.10:g.48652323G= , CM000685.1:g.48652323G= GRCh37
NC_000023.9:g.48537267G= NCBI36
NG_008846.2:g.12343G= , LRG_559:g.12343G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651144.2:c.745G= ENSP00000498550.1:p.Gly249=
ENST00000696450.1:c.1009G= ENSP00000512637.1:p.Gly337=
ENST00000696451.1:c.760G= ENSP00000512638.1:p.Gly254=
ENST00000696452.1:c.784G= ENSP00000512639.1:p.Gly262=
ENST00000376670.9:c.994G= MANE Select ENSP00000365858.3:p.Gly332=
ENST00000651144.1:c.745G= ENSP00000498550.1:p.Gly249=
ENST00000376665.4:c.871-218G= ENSP00000365853.3:n.871-218G=
ENST00000376670.7:c.994G= ENSP00000365858.3:p.Gly332=
NM_002049.3:c.994G= , LRG_559t1:c.994G= NP_002040.1:p.Gly332=
XM_011543897.1:c.1009G= XP_011542199.1:p.Gly337=
XM_011543898.1:c.760G= XP_011542200.1:p.Gly254=
XM_011543897.2:c.1009G= XP_011542199.1:p.Gly337=
XM_011543898.2:c.760G= XP_011542200.1:p.Gly254=
XM_024452363.1:c.745G= XP_024308131.1:p.Gly249=
NM_002049.4:c.994G= MANE Select NP_002040.1:p.Gly332=