Canonical Allele Identifier: CA412867175

Gene: GATA1

Linked Data

• MyVariant Identifiers: chrX:g.48649695T>C (hg19) ; chrX:g.48791288T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791288T>C , CM000685.2:g.48791288T>C	GRCh38
NC_000023.10:g.48649695T>C , CM000685.1:g.48649695T>C	GRCh37
NC_000023.9:g.48534639T>C	NCBI36
NG_008846.2:g.9715T>C , LRG_559:g.9715T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.-29-556T>C	ENSP00000498550.1:n.-29-556T>C
ENST00000696450.1:c.179T>C	ENSP00000512637.1:p.Leu60Pro
ENST00000696451.1:c.-29-556T>C	ENSP00000512638.1:n.-29-556T>C
ENST00000696452.1:c.-29-556T>C	ENSP00000512639.1:n.-29-556T>C
ENST00000376670.9:c.179T>C MANE Select	ENSP00000365858.3:p.Leu60Pro
ENST00000651144.1:c.-29-556T>C	ENSP00000498550.1:n.-29-556T>C
ENST00000376665.4:c.179T>C	ENSP00000365853.3:p.Leu60Pro
ENST00000376670.7:c.179T>C	ENSP00000365858.3:p.Leu60Pro
NM_002049.3:c.179T>C , LRG_559t1:c.179T>C	NP_002040.1:p.Leu60Pro
XM_011543897.1:c.179T>C	XP_011542199.1:p.Leu60Pro
XM_011543898.1:c.-29-556T>C	XP_011542200.1:n.-29-556T>C
XM_011543897.2:c.179T>C	XP_011542199.1:p.Leu60Pro
XM_011543898.2:c.-29-556T>C	XP_011542200.1:n.-29-556T>C
XM_024452363.1:c.-29-556T>C	XP_024308131.1:n.-29-556T>C
NM_002049.4:c.179T>C MANE Select	NP_002040.1:p.Leu60Pro