Canonical Allele Identifier: CA361028401
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134366985A>T (hg19) chr5:g.135031295A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031295A>T , CM000667.2:g.135031295A>T GRCh38
NC_000005.9:g.134366985A>T , CM000667.1:g.134366985A>T GRCh37
NC_000005.8:g.134394884A>T NCBI36
NG_012114.1:g.7980T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.383T>A MANE Select ENSP00000265340.6:p.Leu128His
ENST00000265340.11:c.383T>A ENSP00000265340.6:p.Leu128His
ENST00000503586.1:c.505T>A
ENST00000504936.1:n.716T>A
ENST00000506438.5:c.383T>A ENSP00000427542.1:p.Leu128His
ENST00000507253.5:c.383T>A ENSP00000422908.1:p.Leu128His
NM_002653.4:c.383T>A NP_002644.4:p.Leu128His
NM_002653.5:c.383T>A MANE Select NP_002644.4:p.Leu128His
Search 100 bp 5'
Search 100 bp 3'