Canonical Allele Identifier: CA361028554
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134367048G>T (hg19) chr5:g.135031358G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031358G>T , CM000667.2:g.135031358G>T GRCh38
NC_000005.9:g.134367048G>T , CM000667.1:g.134367048G>T GRCh37
NC_000005.8:g.134394947G>T NCBI36
NG_012114.1:g.7917C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.320C>A MANE Select ENSP00000265340.6:p.Thr107Lys
ENST00000265340.11:c.320C>A ENSP00000265340.6:p.Thr107Lys
ENST00000502676.1:c.320C>A ENSP00000423624.1:p.Thr107Lys
ENST00000503586.1:c.442C>A
ENST00000504936.1:n.653C>A
ENST00000506438.5:c.320C>A ENSP00000427542.1:p.Thr107Lys
ENST00000507253.5:c.320C>A ENSP00000422908.1:p.Thr107Lys
NM_002653.4:c.320C>A NP_002644.4:p.Thr107Lys
NM_002653.5:c.320C>A MANE Select NP_002644.4:p.Thr107Lys
Search 100 bp 5'
Search 100 bp 3'