Canonical Allele Identifier: CA412871008

Gene: GATA1

Linked Data

• MyVariant Identifiers: chrX:g.48650850C>A (hg19) ; chrX:g.48792443C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792443C>A , CM000685.2:g.48792443C>A	GRCh38
NC_000023.10:g.48650850C>A , CM000685.1:g.48650850C>A	GRCh37
NC_000023.9:g.48535794C>A	NCBI36
NG_008846.2:g.10870C>A , LRG_559:g.10870C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.470C>A	ENSP00000498550.1:p.Pro157His
ENST00000696450.1:c.719C>A	ENSP00000512637.1:p.Pro240His
ENST00000696451.1:c.470C>A	ENSP00000512638.1:p.Pro157His
ENST00000696452.1:c.470C>A	ENSP00000512639.1:p.Pro157His
ENST00000376670.9:c.719C>A MANE Select	ENSP00000365858.3:p.Pro240His
ENST00000651144.1:c.470C>A	ENSP00000498550.1:p.Pro157His
ENST00000376665.4:c.719C>A	ENSP00000365853.3:p.Pro240His
ENST00000376670.7:c.719C>A	ENSP00000365858.3:p.Pro240His
NM_002049.3:c.719C>A , LRG_559t1:c.719C>A	NP_002040.1:p.Pro240His
XM_011543897.1:c.719C>A	XP_011542199.1:p.Pro240His
XM_011543898.1:c.470C>A	XP_011542200.1:p.Pro157His
XM_011543897.2:c.719C>A	XP_011542199.1:p.Pro240His
XM_011543898.2:c.470C>A	XP_011542200.1:p.Pro157His
XM_024452363.1:c.470C>A	XP_024308131.1:p.Pro157His
NM_002049.4:c.719C>A MANE Select	NP_002040.1:p.Pro240His