Canonical Allele Identifier: CA412866876
Gene: GATA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 465134
dbSNP Id: rs1557020021
COSMIC: COSM17632

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48791198C>G , CM000685.2:g.48791198C>G GRCh38
NC_000023.10:g.48649605C>G , CM000685.1:g.48649605C>G GRCh37
NC_000023.9:g.48534549C>G NCBI36
NG_008846.2:g.9625C>G , LRG_559:g.9625C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651144.2:c.-29-646C>G ENSP00000498550.1:n.-29-646C>G
ENST00000696450.1:c.89C>G ENSP00000512637.1:p.Ser30Ter
ENST00000696451.1:c.-29-646C>G ENSP00000512638.1:n.-29-646C>G
ENST00000696452.1:c.-29-646C>G ENSP00000512639.1:n.-29-646C>G
ENST00000376670.9:c.89C>G MANE Select ENSP00000365858.3:p.Ser30Ter
ENST00000651144.1:c.-29-646C>G ENSP00000498550.1:n.-29-646C>G
ENST00000376665.4:c.89C>G ENSP00000365853.3:p.Ser30Ter
ENST00000376670.7:c.89C>G ENSP00000365858.3:p.Ser30Ter
NM_002049.3:c.89C>G , LRG_559t1:c.89C>G NP_002040.1:p.Ser30Ter
XM_011543897.1:c.89C>G XP_011542199.1:p.Ser30Ter
XM_011543898.1:c.-29-646C>G XP_011542200.1:n.-29-646C>G
XM_011543897.2:c.89C>G XP_011542199.1:p.Ser30Ter
XM_011543898.2:c.-29-646C>G XP_011542200.1:n.-29-646C>G
XM_024452363.1:c.-29-646C>G XP_024308131.1:n.-29-646C>G
NM_002049.4:c.89C>G MANE Select NP_002040.1:p.Ser30Ter