Canonical Allele Identifier: CA2675354327
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135031855-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031855T>G , CM000667.2:g.135031855T>G GRCh38
NC_000005.9:g.134367545T>G , CM000667.1:g.134367545T>G GRCh37
NC_000005.8:g.134395444T>G NCBI36
NG_012114.1:g.7420A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.170-347A>C MANE Select ENSP00000265340.6:n.170-347A>C
ENST00000265340.11:c.170-347A>C ENSP00000265340.6:n.170-347A>C
ENST00000502676.1:c.170-347A>C ENSP00000423624.1:n.170-347A>C
ENST00000503586.1:c.292-347A>C
ENST00000504936.1:n.156A>C
ENST00000506438.5:c.170-347A>C ENSP00000427542.1:n.170-347A>C
ENST00000507253.5:c.170-347A>C ENSP00000422908.1:n.170-347A>C
NM_002653.4:c.170-347A>C NP_002644.4:n.170-347A>C
NM_002653.5:c.170-347A>C MANE Select NP_002644.4:n.170-347A>C
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