Canonical Allele Identifier: CA1584342311
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1580927462
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031762A>G , CM000667.2:g.135031762A>G GRCh38
NC_000005.9:g.134367452A>G , CM000667.1:g.134367452A>G GRCh37
NC_000005.8:g.134395351A>G NCBI36
NG_012114.1:g.7513T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.170-254T>C MANE Select ENSP00000265340.6:n.170-254T>C
ENST00000265340.11:c.170-254T>C ENSP00000265340.6:n.170-254T>C
ENST00000502676.1:c.170-254T>C ENSP00000423624.1:n.170-254T>C
ENST00000503586.1:c.292-254T>C
ENST00000504936.1:n.249T>C
ENST00000506438.5:c.170-254T>C ENSP00000427542.1:n.170-254T>C
ENST00000507253.5:c.170-254T>C ENSP00000422908.1:n.170-254T>C
NM_002653.4:c.170-254T>C NP_002644.4:n.170-254T>C
NM_002653.5:c.170-254T>C MANE Select NP_002644.4:n.170-254T>C
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