Canonical Allele Identifier: CA2428390630

Gene: GATA1

Linked Data

• dbSNP Id: rs2062677812

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792306C>G , CM000685.2:g.48792306C>G	GRCh38
NC_000023.10:g.48650713C>G , CM000685.1:g.48650713C>G	GRCh37
NC_000023.9:g.48535657C>G	NCBI36
NG_008846.2:g.10733C>G , LRG_559:g.10733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.350-17C>G	ENSP00000498550.1:n.350-17C>G
ENST00000696450.1:c.599-17C>G	ENSP00000512637.1:n.599-17C>G
ENST00000696451.1:c.350-17C>G	ENSP00000512638.1:n.350-17C>G
ENST00000696452.1:c.350-17C>G	ENSP00000512639.1:n.350-17C>G
ENST00000376670.9:c.599-17C>G MANE Select	ENSP00000365858.3:n.599-17C>G
ENST00000651144.1:c.350-17C>G	ENSP00000498550.1:n.350-17C>G
ENST00000376665.4:c.599-17C>G	ENSP00000365853.3:n.599-17C>G
ENST00000376670.7:c.599-17C>G	ENSP00000365858.3:n.599-17C>G
NM_002049.3:c.599-17C>G , LRG_559t1:c.599-17C>G	NP_002040.1:n.599-17C>G
XM_011543897.1:c.599-17C>G	XP_011542199.1:n.599-17C>G
XM_011543898.1:c.350-17C>G	XP_011542200.1:n.350-17C>G
XM_011543897.2:c.599-17C>G	XP_011542199.1:n.599-17C>G
XM_011543898.2:c.350-17C>G	XP_011542200.1:n.350-17C>G
XM_024452363.1:c.350-17C>G	XP_024308131.1:n.350-17C>G
NM_002049.4:c.599-17C>G MANE Select	NP_002040.1:n.599-17C>G