Canonical Allele Identifier: CA345942

Gene: GATA1

Linked Data

• ClinVar Variation Id: 156268
• ClinVar RCV Id: RCV000144257
• dbSNP Id: rs587776454
• MyVariant Identifiers: chrX:g.48650753G>C (hg19) ; chrX:g.48792346G>C (hg38)
• PubMed: PMID:16103636 ; PMID:17713552 ; PMID:20301538

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792346G>C , CM000685.2:g.48792346G>C	GRCh38
NC_000023.10:g.48650753G>C , CM000685.1:g.48650753G>C	GRCh37
NC_000023.9:g.48535697G>C	NCBI36
NG_008846.2:g.10773G>C , LRG_559:g.10773G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.373G>C	ENSP00000498550.1:p.Gly125Arg
ENST00000696450.1:c.622G>C	ENSP00000512637.1:p.Gly208Arg
ENST00000696451.1:c.373G>C	ENSP00000512638.1:p.Gly125Arg
ENST00000696452.1:c.373G>C	ENSP00000512639.1:p.Gly125Arg
ENST00000376670.9:c.622G>C MANE Select	ENSP00000365858.3:p.Gly208Arg
ENST00000651144.1:c.373G>C	ENSP00000498550.1:p.Gly125Arg
ENST00000376665.4:c.622G>C	ENSP00000365853.3:p.Gly208Arg
ENST00000376670.7:c.622G>C	ENSP00000365858.3:p.Gly208Arg
NM_002049.3:c.622G>C , LRG_559t1:c.622G>C	NP_002040.1:p.Gly208Arg
XM_011543897.1:c.622G>C	XP_011542199.1:p.Gly208Arg
XM_011543898.1:c.373G>C	XP_011542200.1:p.Gly125Arg
XM_011543897.2:c.622G>C	XP_011542199.1:p.Gly208Arg
XM_011543898.2:c.373G>C	XP_011542200.1:p.Gly125Arg
XM_024452363.1:c.373G>C	XP_024308131.1:p.Gly125Arg
NM_002049.4:c.622G>C MANE Select	NP_002040.1:p.Gly208Arg