Canonical Allele Identifier: CA2428390646
Gene: GATA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48792346G= , CM000685.2:g.48792346G= GRCh38
NC_000023.10:g.48650753G= , CM000685.1:g.48650753G= GRCh37
NC_000023.9:g.48535697G= NCBI36
NG_008846.2:g.10773G= , LRG_559:g.10773G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651144.2:c.373G= ENSP00000498550.1:p.Gly125=
ENST00000696450.1:c.622G= ENSP00000512637.1:p.Gly208=
ENST00000696451.1:c.373G= ENSP00000512638.1:p.Gly125=
ENST00000696452.1:c.373G= ENSP00000512639.1:p.Gly125=
ENST00000376670.9:c.622G= MANE Select ENSP00000365858.3:p.Gly208=
ENST00000651144.1:c.373G= ENSP00000498550.1:p.Gly125=
ENST00000376665.4:c.622G= ENSP00000365853.3:p.Gly208=
ENST00000376670.7:c.622G= ENSP00000365858.3:p.Gly208=
NM_002049.3:c.622G= , LRG_559t1:c.622G= NP_002040.1:p.Gly208=
XM_011543897.1:c.622G= XP_011542199.1:p.Gly208=
XM_011543898.1:c.373G= XP_011542200.1:p.Gly125=
XM_011543897.2:c.622G= XP_011542199.1:p.Gly208=
XM_011543898.2:c.373G= XP_011542200.1:p.Gly125=
XM_024452363.1:c.373G= XP_024308131.1:p.Gly125=
NM_002049.4:c.622G= MANE Select NP_002040.1:p.Gly208=