Canonical Allele Identifier: CA516357634

Gene: GATA1

Linked Data

• gnomAD v4: X-48792363-A-C
• MyVariant Identifiers: chrX:g.48650770A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792363A>C , CM000685.2:g.48792363A>C	GRCh38
NC_000023.10:g.48650770A>C , CM000685.1:g.48650770A>C	GRCh37
NC_000023.9:g.48535714A>C	NCBI36
NG_008846.2:g.10790A>C , LRG_559:g.10790A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.390A>C	ENSP00000498550.1:p.Pro130=
ENST00000696450.1:c.639A>C	ENSP00000512637.1:p.Pro213=
ENST00000696451.1:c.390A>C	ENSP00000512638.1:p.Pro130=
ENST00000696452.1:c.390A>C	ENSP00000512639.1:p.Pro130=
ENST00000376670.9:c.639A>C MANE Select	ENSP00000365858.3:p.Pro213=
ENST00000651144.1:c.390A>C	ENSP00000498550.1:p.Pro130=
ENST00000376665.4:c.639A>C	ENSP00000365853.3:p.Pro213=
ENST00000376670.7:c.639A>C	ENSP00000365858.3:p.Pro213=
NM_002049.3:c.639A>C , LRG_559t1:c.639A>C	NP_002040.1:p.Pro213=
XM_011543897.1:c.639A>C	XP_011542199.1:p.Pro213=
XM_011543898.1:c.390A>C	XP_011542200.1:p.Pro130=
XM_011543897.2:c.639A>C	XP_011542199.1:p.Pro213=
XM_011543898.2:c.390A>C	XP_011542200.1:p.Pro130=
XM_024452363.1:c.390A>C	XP_024308131.1:p.Pro130=
NM_002049.4:c.639A>C MANE Select	NP_002040.1:p.Pro213=