Canonical Allele Identifier: CA2675353945
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135031161-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031161T>G , CM000667.2:g.135031161T>G GRCh38
NC_000005.9:g.134366851T>G , CM000667.1:g.134366851T>G GRCh37
NC_000005.8:g.134394750T>G NCBI36
NG_012114.1:g.8114A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.402+115A>C MANE Select ENSP00000265340.6:n.402+115A>C
ENST00000265340.11:c.402+115A>C ENSP00000265340.6:n.402+115A>C
ENST00000503586.1:c.524+115A>C
ENST00000504936.1:n.735+115A>C
ENST00000506438.5:c.402+115A>C ENSP00000427542.1:n.402+115A>C
NM_002653.4:c.402+115A>C NP_002644.4:n.402+115A>C
NM_002653.5:c.402+115A>C MANE Select NP_002644.4:n.402+115A>C
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