Canonical Allele Identifier: CA342811

Gene: GATA1

Linked Data

• ClinVar Variation Id: 31943
• ClinVar RCV Id: RCV000024620 ; RCV001725115 ; RCV001542264 ; RCV002281045 ; RCV003398569 ; RCV003989300
• dbSNP Id: rs387907207
• MyVariant Identifiers: chrX:g.48650777C>T (hg19) ; chrX:g.48792370C>T (hg38)
• PubMed: PMID:3521939 ; PMID:12200364 ; PMID:17148589 ; PMID:19268002 ; PMID:20301538 ; PMID:23704091

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792370C>T , CM000685.2:g.48792370C>T	GRCh38
NC_000023.10:g.48650777C>T , CM000685.1:g.48650777C>T	GRCh37
NC_000023.9:g.48535721C>T	NCBI36
NG_008846.2:g.10797C>T , LRG_559:g.10797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.397C>T	ENSP00000498550.1:p.Arg133Trp
ENST00000696450.1:c.646C>T	ENSP00000512637.1:p.Arg216Trp
ENST00000696451.1:c.397C>T	ENSP00000512638.1:p.Arg133Trp
ENST00000696452.1:c.397C>T	ENSP00000512639.1:p.Arg133Trp
ENST00000376670.9:c.646C>T MANE Select	ENSP00000365858.3:p.Arg216Trp
ENST00000651144.1:c.397C>T	ENSP00000498550.1:p.Arg133Trp
ENST00000376665.4:c.646C>T	ENSP00000365853.3:p.Arg216Trp
ENST00000376670.7:c.646C>T	ENSP00000365858.3:p.Arg216Trp
NM_002049.3:c.646C>T , LRG_559t1:c.646C>T	NP_002040.1:p.Arg216Trp
XM_011543897.1:c.646C>T	XP_011542199.1:p.Arg216Trp
XM_011543898.1:c.397C>T	XP_011542200.1:p.Arg133Trp
XM_011543897.2:c.646C>T	XP_011542199.1:p.Arg216Trp
XM_011543898.2:c.397C>T	XP_011542200.1:p.Arg133Trp
XM_024452363.1:c.397C>T	XP_024308131.1:p.Arg133Trp
NM_002049.4:c.646C>T MANE Select	NP_002040.1:p.Arg216Trp