Canonical Allele Identifier: CA412867164

Gene: GATA1

Linked Data

• gnomAD v4: X-48791285-C-A
• MyVariant Identifiers: chrX:g.48649692C>A (hg19) ; chrX:g.48791285C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791285C>A , CM000685.2:g.48791285C>A	GRCh38
NC_000023.10:g.48649692C>A , CM000685.1:g.48649692C>A	GRCh37
NC_000023.9:g.48534636C>A	NCBI36
NG_008846.2:g.9712C>A , LRG_559:g.9712C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.-29-559C>A	ENSP00000498550.1:n.-29-559C>A
ENST00000696450.1:c.176C>A	ENSP00000512637.1:p.Ala59Glu
ENST00000696451.1:c.-29-559C>A	ENSP00000512638.1:n.-29-559C>A
ENST00000696452.1:c.-29-559C>A	ENSP00000512639.1:n.-29-559C>A
ENST00000376670.9:c.176C>A MANE Select	ENSP00000365858.3:p.Ala59Glu
ENST00000651144.1:c.-29-559C>A	ENSP00000498550.1:n.-29-559C>A
ENST00000376665.4:c.176C>A	ENSP00000365853.3:p.Ala59Glu
ENST00000376670.7:c.176C>A	ENSP00000365858.3:p.Ala59Glu
NM_002049.3:c.176C>A , LRG_559t1:c.176C>A	NP_002040.1:p.Ala59Glu
XM_011543897.1:c.176C>A	XP_011542199.1:p.Ala59Glu
XM_011543898.1:c.-29-559C>A	XP_011542200.1:n.-29-559C>A
XM_011543897.2:c.176C>A	XP_011542199.1:p.Ala59Glu
XM_011543898.2:c.-29-559C>A	XP_011542200.1:n.-29-559C>A
XM_024452363.1:c.-29-559C>A	XP_024308131.1:n.-29-559C>A
NM_002049.4:c.176C>A MANE Select	NP_002040.1:p.Ala59Glu