Canonical Allele Identifier: CA412869953

Gene: GATA1

Linked Data

• gnomAD v4: X-48792183-C-T
• COSMIC: COSM3800629
• MyVariant Identifiers: chrX:g.48650590C>T (hg19) ; chrX:g.48792183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792183C>T , CM000685.2:g.48792183C>T	GRCh38
NC_000023.10:g.48650590C>T , CM000685.1:g.48650590C>T	GRCh37
NC_000023.9:g.48535534C>T	NCBI36
NG_008846.2:g.10610C>T , LRG_559:g.10610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.311C>T	ENSP00000498550.1:p.Ser104Phe
ENST00000696450.1:c.560C>T	ENSP00000512637.1:p.Ser187Phe
ENST00000696451.1:c.311C>T	ENSP00000512638.1:p.Ser104Phe
ENST00000696452.1:c.311C>T	ENSP00000512639.1:p.Ser104Phe
ENST00000376670.9:c.560C>T MANE Select	ENSP00000365858.3:p.Ser187Phe
ENST00000651144.1:c.311C>T	ENSP00000498550.1:p.Ser104Phe
ENST00000376665.4:c.560C>T	ENSP00000365853.3:p.Ser187Phe
ENST00000376670.7:c.560C>T	ENSP00000365858.3:p.Ser187Phe
NM_002049.3:c.560C>T , LRG_559t1:c.560C>T	NP_002040.1:p.Ser187Phe
XM_011543897.1:c.560C>T	XP_011542199.1:p.Ser187Phe
XM_011543898.1:c.311C>T	XP_011542200.1:p.Ser104Phe
XM_011543897.2:c.560C>T	XP_011542199.1:p.Ser187Phe
XM_011543898.2:c.311C>T	XP_011542200.1:p.Ser104Phe
XM_024452363.1:c.311C>T	XP_024308131.1:p.Ser104Phe
NM_002049.4:c.560C>T MANE Select	NP_002040.1:p.Ser187Phe