Canonical Allele Identifier: CA10404705

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48794079T>C , CM000685.2:g.48794079T>C	GRCh38
NC_000023.10:g.48652486T>C , CM000685.1:g.48652486T>C	GRCh37
NC_000023.9:g.48537430T>C	NCBI36
NG_008846.2:g.12506T>C , LRG_559:g.12506T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002049.4:c.1157T>C MANE Select	NP_002040.1:p.Leu386Pro
ENST00000376670.9:c.1157T>C MANE Select	ENSP00000365858.3:p.Leu386Pro
NM_002049.3:c.1157T>C , LRG_559t1:c.1157T>C	NP_002040.1:p.Leu386Pro
ENST00000376665.4:c.871-55T>C	ENSP00000365853.3:n.871-55T>C
ENST00000376670.7:c.1157T>C	ENSP00000365858.3:p.Leu386Pro
ENST00000651144.1:c.908T>C	ENSP00000498550.1:p.Leu303Pro
ENST00000651144.2:c.908T>C	ENSP00000498550.1:p.Leu303Pro
ENST00000696450.1:c.1172T>C	ENSP00000512637.1:p.Leu391Pro
ENST00000696451.1:c.923T>C	ENSP00000512638.1:p.Leu308Pro
ENST00000696452.1:c.947T>C	ENSP00000512639.1:p.Leu316Pro
XM_011543897.1:c.1172T>C	XP_011542199.1:p.Leu391Pro
XM_011543897.2:c.1172T>C	XP_011542199.1:p.Leu391Pro
XM_011543898.1:c.923T>C	XP_011542200.1:p.Leu308Pro
XM_011543898.2:c.923T>C	XP_011542200.1:p.Leu308Pro
XM_024452363.1:c.908T>C	XP_024308131.1:p.Leu303Pro