Canonical Allele Identifier: CA2710328300
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs2149560579
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031129G>A , CM000667.2:g.135031129G>A GRCh38
NC_000005.9:g.134366819G>A , CM000667.1:g.134366819G>A GRCh37
NC_000005.8:g.134394718G>A NCBI36
NG_012114.1:g.8146C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.402+147C>T MANE Select ENSP00000265340.6:n.402+147C>T
ENST00000265340.11:c.402+147C>T ENSP00000265340.6:n.402+147C>T
ENST00000503586.1:c.524+147C>T
ENST00000504936.1:n.735+147C>T
ENST00000506438.5:c.402+147C>T ENSP00000427542.1:n.402+147C>T
NM_002653.4:c.402+147C>T NP_002644.4:n.402+147C>T
NM_002653.5:c.402+147C>T MANE Select NP_002644.4:n.402+147C>T
Search 100 bp 5'
Search 100 bp 3'