Canonical Allele Identifier: CA10404684

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48793884T>C , CM000685.2:g.48793884T>C	GRCh38
NC_000023.10:g.48652291T>C , CM000685.1:g.48652291T>C	GRCh37
NC_000023.9:g.48537235T>C	NCBI36
NG_008846.2:g.12311T>C , LRG_559:g.12311T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002049.4:c.962T>C MANE Select	NP_002040.1:p.Leu321Pro
ENST00000376670.9:c.962T>C MANE Select	ENSP00000365858.3:p.Leu321Pro
NM_002049.3:c.962T>C , LRG_559t1:c.962T>C	NP_002040.1:p.Leu321Pro
ENST00000376665.4:c.871-250T>C	ENSP00000365853.3:n.871-250T>C
ENST00000376670.7:c.962T>C	ENSP00000365858.3:p.Leu321Pro
ENST00000651144.1:c.713T>C	ENSP00000498550.1:p.Leu238Pro
ENST00000651144.2:c.713T>C	ENSP00000498550.1:p.Leu238Pro
ENST00000696450.1:c.977T>C	ENSP00000512637.1:p.Leu326Pro
ENST00000696451.1:c.728T>C	ENSP00000512638.1:p.Leu243Pro
ENST00000696452.1:c.752T>C	ENSP00000512639.1:p.Leu251Pro
XM_011543897.1:c.977T>C	XP_011542199.1:p.Leu326Pro
XM_011543897.2:c.977T>C	XP_011542199.1:p.Leu326Pro
XM_011543898.1:c.728T>C	XP_011542200.1:p.Leu243Pro
XM_011543898.2:c.728T>C	XP_011542200.1:p.Leu243Pro
XM_024452363.1:c.713T>C	XP_024308131.1:p.Leu238Pro