Canonical Allele Identifier: CA412870669
Gene: GATA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48792378C>A , CM000685.2:g.48792378C>A GRCh38
NC_000023.10:g.48650785C>A , CM000685.1:g.48650785C>A GRCh37
NC_000023.9:g.48535729C>A NCBI36
NG_008846.2:g.10805C>A , LRG_559:g.10805C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651144.2:c.405C>A ENSP00000498550.1:p.Asp135Glu
ENST00000696450.1:c.654C>A ENSP00000512637.1:p.Asp218Glu
ENST00000696451.1:c.405C>A ENSP00000512638.1:p.Asp135Glu
ENST00000696452.1:c.405C>A ENSP00000512639.1:p.Asp135Glu
ENST00000376670.9:c.654C>A MANE Select ENSP00000365858.3:p.Asp218Glu
ENST00000651144.1:c.405C>A ENSP00000498550.1:p.Asp135Glu
ENST00000376665.4:c.654C>A ENSP00000365853.3:p.Asp218Glu
ENST00000376670.7:c.654C>A ENSP00000365858.3:p.Asp218Glu
NM_002049.3:c.654C>A , LRG_559t1:c.654C>A NP_002040.1:p.Asp218Glu
XM_011543897.1:c.654C>A XP_011542199.1:p.Asp218Glu
XM_011543898.1:c.405C>A XP_011542200.1:p.Asp135Glu
XM_011543897.2:c.654C>A XP_011542199.1:p.Asp218Glu
XM_011543898.2:c.405C>A XP_011542200.1:p.Asp135Glu
XM_024452363.1:c.405C>A XP_024308131.1:p.Asp135Glu
NM_002049.4:c.654C>A MANE Select NP_002040.1:p.Asp218Glu