Canonical Allele Identifier: CA516358128

Gene: GATA1

Linked Data

• dbSNP Id: rs1557020272
• gnomAD v2: X-48650618-G-A
• gnomAD v4: X-48792211-G-A
• MyVariant Identifiers: chrX:g.48650618G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792211G>A , CM000685.2:g.48792211G>A	GRCh38
NC_000023.10:g.48650618G>A , CM000685.1:g.48650618G>A	GRCh37
NC_000023.9:g.48535562G>A	NCBI36
NG_008846.2:g.10638G>A , LRG_559:g.10638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.339G>A	ENSP00000498550.1:p.Leu113=
ENST00000696450.1:c.588G>A	ENSP00000512637.1:p.Leu196=
ENST00000696451.1:c.339G>A	ENSP00000512638.1:p.Leu113=
ENST00000696452.1:c.339G>A	ENSP00000512639.1:p.Leu113=
ENST00000376670.9:c.588G>A MANE Select	ENSP00000365858.3:p.Leu196=
ENST00000651144.1:c.339G>A	ENSP00000498550.1:p.Leu113=
ENST00000376665.4:c.588G>A	ENSP00000365853.3:p.Leu196=
ENST00000376670.7:c.588G>A	ENSP00000365858.3:p.Leu196=
NM_002049.3:c.588G>A , LRG_559t1:c.588G>A	NP_002040.1:p.Leu196=
XM_011543897.1:c.588G>A	XP_011542199.1:p.Leu196=
XM_011543898.1:c.339G>A	XP_011542200.1:p.Leu113=
XM_011543897.2:c.588G>A	XP_011542199.1:p.Leu196=
XM_011543898.2:c.339G>A	XP_011542200.1:p.Leu113=
XM_024452363.1:c.339G>A	XP_024308131.1:p.Leu113=
NM_002049.4:c.588G>A MANE Select	NP_002040.1:p.Leu196=