Canonical Allele Identifier: CA361027582
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134364662G>C (hg19) chr5:g.135028972G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028972G>C , CM000667.2:g.135028972G>C GRCh38
NC_000005.9:g.134364662G>C , CM000667.1:g.134364662G>C GRCh37
NC_000005.8:g.134392561G>C NCBI36
NG_012114.1:g.10303C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.752C>G MANE Select ENSP00000265340.6:p.Ser251Cys
ENST00000265340.11:c.752C>G ENSP00000265340.6:p.Ser251Cys
ENST00000506438.5:c.752C>G ENSP00000427542.1:p.Ser251Cys
NM_002653.4:c.752C>G NP_002644.4:p.Ser251Cys
NM_002653.5:c.752C>G MANE Select NP_002644.4:p.Ser251Cys
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