Canonical Allele Identifier: CA10404692

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48793967G>A , CM000685.2:g.48793967G>A	GRCh38
NC_000023.10:g.48652374G>A , CM000685.1:g.48652374G>A	GRCh37
NC_000023.9:g.48537318G>A	NCBI36
NG_008846.2:g.12394G>A , LRG_559:g.12394G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002049.4:c.1045G>A MANE Select	NP_002040.1:p.Val349Met
ENST00000376670.9:c.1045G>A MANE Select	ENSP00000365858.3:p.Val349Met
NM_002049.3:c.1045G>A , LRG_559t1:c.1045G>A	NP_002040.1:p.Val349Met
ENST00000376665.4:c.871-167G>A	ENSP00000365853.3:n.871-167G>A
ENST00000376670.7:c.1045G>A	ENSP00000365858.3:p.Val349Met
ENST00000651144.1:c.796G>A	ENSP00000498550.1:p.Val266Met
ENST00000651144.2:c.796G>A	ENSP00000498550.1:p.Val266Met
ENST00000696450.1:c.1060G>A	ENSP00000512637.1:p.Val354Met
ENST00000696451.1:c.811G>A	ENSP00000512638.1:p.Val271Met
ENST00000696452.1:c.835G>A	ENSP00000512639.1:p.Val279Met
XM_011543897.1:c.1060G>A	XP_011542199.1:p.Val354Met
XM_011543897.2:c.1060G>A	XP_011542199.1:p.Val354Met
XM_011543898.1:c.811G>A	XP_011542200.1:p.Val271Met
XM_011543898.2:c.811G>A	XP_011542200.1:p.Val271Met
XM_024452363.1:c.796G>A	XP_024308131.1:p.Val266Met