Canonical Allele Identifier: CA516357822

Gene: GATA1

Linked Data

• gnomAD v4: X-48792420-C-T
• MyVariant Identifiers: chrX:g.48650827C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792420C>T , CM000685.2:g.48792420C>T	GRCh38
NC_000023.10:g.48650827C>T , CM000685.1:g.48650827C>T	GRCh37
NC_000023.9:g.48535771C>T	NCBI36
NG_008846.2:g.10847C>T , LRG_559:g.10847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.447C>T	ENSP00000498550.1:p.His149=
ENST00000696450.1:c.696C>T	ENSP00000512637.1:p.His232=
ENST00000696451.1:c.447C>T	ENSP00000512638.1:p.His149=
ENST00000696452.1:c.447C>T	ENSP00000512639.1:p.His149=
ENST00000376670.9:c.696C>T MANE Select	ENSP00000365858.3:p.His232=
ENST00000651144.1:c.447C>T	ENSP00000498550.1:p.His149=
ENST00000376665.4:c.696C>T	ENSP00000365853.3:p.His232=
ENST00000376670.7:c.696C>T	ENSP00000365858.3:p.His232=
NM_002049.3:c.696C>T , LRG_559t1:c.696C>T	NP_002040.1:p.His232=
XM_011543897.1:c.696C>T	XP_011542199.1:p.His232=
XM_011543898.1:c.447C>T	XP_011542200.1:p.His149=
XM_011543897.2:c.696C>T	XP_011542199.1:p.His232=
XM_011543898.2:c.447C>T	XP_011542200.1:p.His149=
XM_024452363.1:c.447C>T	XP_024308131.1:p.His149=
NM_002049.4:c.696C>T MANE Select	NP_002040.1:p.His232=