Canonical Allele Identifier: CA10404581
Community Standard Title: NM_002049.4(GATA1):c.283G>A (p.Gly95Ser)
Gene: GATA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48791906G>A , CM000685.2:g.48791906G>A GRCh38
NC_000023.10:g.48650313G>A , CM000685.1:g.48650313G>A GRCh37
NC_000023.9:g.48535257G>A NCBI36
NG_008846.2:g.10333G>A , LRG_559:g.10333G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002049.4:c.283G>A MANE Select NP_002040.1:p.Gly95Ser
ENST00000376670.9:c.283G>A MANE Select ENSP00000365858.3:p.Gly95Ser
NM_002049.3:c.283G>A , LRG_559t1:c.283G>A NP_002040.1:p.Gly95Ser
ENST00000376665.4:c.283G>A ENSP00000365853.3:p.Gly95Ser
ENST00000376670.7:c.283G>A ENSP00000365858.3:p.Gly95Ser
ENST00000651144.1:c.34G>A ENSP00000498550.1:p.Gly12Ser
ENST00000651144.2:c.34G>A ENSP00000498550.1:p.Gly12Ser
ENST00000696450.1:c.283G>A ENSP00000512637.1:p.Gly95Ser
ENST00000696451.1:c.34G>A ENSP00000512638.1:p.Gly12Ser
ENST00000696452.1:c.34G>A ENSP00000512639.1:p.Gly12Ser
XM_011543897.1:c.283G>A XP_011542199.1:p.Gly95Ser
XM_011543897.2:c.283G>A XP_011542199.1:p.Gly95Ser
XM_011543898.1:c.34G>A XP_011542200.1:p.Gly12Ser
XM_011543898.2:c.34G>A XP_011542200.1:p.Gly12Ser
XM_024452363.1:c.34G>A XP_024308131.1:p.Gly12Ser