Canonical Allele Identifier: CA10404635

Gene: GATA1

Linked Data

• dbSNP Id: rs782435835
• ExAC: X:48650699 T / C
• gnomAD v2: X-48650699-T-C
• gnomAD v4: X-48792292-T-C
• MyVariant Identifiers: chrX:g.48650699T>C (hg19) ; chrX:g.48792292T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792292T>C , CM000685.2:g.48792292T>C	GRCh38
NC_000023.10:g.48650699T>C , CM000685.1:g.48650699T>C	GRCh37
NC_000023.9:g.48535643T>C	NCBI36
NG_008846.2:g.10719T>C , LRG_559:g.10719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.350-31T>C	ENSP00000498550.1:n.350-31T>C
ENST00000696450.1:c.599-31T>C	ENSP00000512637.1:n.599-31T>C
ENST00000696451.1:c.350-31T>C	ENSP00000512638.1:n.350-31T>C
ENST00000696452.1:c.350-31T>C	ENSP00000512639.1:n.350-31T>C
ENST00000376670.9:c.599-31T>C MANE Select	ENSP00000365858.3:n.599-31T>C
ENST00000651144.1:c.350-31T>C	ENSP00000498550.1:n.350-31T>C
ENST00000376665.4:c.599-31T>C	ENSP00000365853.3:n.599-31T>C
ENST00000376670.7:c.599-31T>C	ENSP00000365858.3:n.599-31T>C
NM_002049.3:c.599-31T>C , LRG_559t1:c.599-31T>C	NP_002040.1:n.599-31T>C
XM_011543897.1:c.599-31T>C	XP_011542199.1:n.599-31T>C
XM_011543898.1:c.350-31T>C	XP_011542200.1:n.350-31T>C
XM_011543897.2:c.599-31T>C	XP_011542199.1:n.599-31T>C
XM_011543898.2:c.350-31T>C	XP_011542200.1:n.350-31T>C
XM_024452363.1:c.350-31T>C	XP_024308131.1:n.350-31T>C
NM_002049.4:c.599-31T>C MANE Select	NP_002040.1:n.599-31T>C