Canonical Allele Identifier: CA2428390191
Gene: GATA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48791111T= , CM000685.2:g.48791111T= GRCh38
NC_000023.10:g.48649518T= , CM000685.1:g.48649518T= GRCh37
NC_000023.9:g.48534462T= NCBI36
NG_008846.2:g.9538T= , LRG_559:g.9538T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651144.2:c.-29-733T= ENSP00000498550.1:n.-29-733T=
ENST00000696450.1:c.2T= ENSP00000512637.1:p.Met1=
ENST00000696451.1:c.-29-733T= ENSP00000512638.1:n.-29-733T=
ENST00000696452.1:c.-29-733T= ENSP00000512639.1:n.-29-733T=
ENST00000376670.9:c.2T= MANE Select ENSP00000365858.3:p.Met1=
ENST00000651144.1:c.-29-733T= ENSP00000498550.1:n.-29-733T=
ENST00000376665.4:c.2T= ENSP00000365853.3:p.Met1=
ENST00000376670.7:c.2T= ENSP00000365858.3:p.Met1=
NM_002049.3:c.2T= , LRG_559t1:c.2T= NP_002040.1:p.Met1=
XM_011543897.1:c.2T= XP_011542199.1:p.Met1=
XM_011543898.1:c.-29-733T= XP_011542200.1:n.-29-733T=
XM_011543897.2:c.2T= XP_011542199.1:p.Met1=
XM_011543898.2:c.-29-733T= XP_011542200.1:n.-29-733T=
XM_024452363.1:c.-29-733T= XP_024308131.1:n.-29-733T=
NM_002049.4:c.2T= MANE Select NP_002040.1:p.Met1=