Canonical Allele Identifier: CA361027788
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134364758G>A (hg19) chr5:g.135029068G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029068G>A , CM000667.2:g.135029068G>A GRCh38
NC_000005.9:g.134364758G>A , CM000667.1:g.134364758G>A GRCh37
NC_000005.8:g.134392657G>A NCBI36
NG_012114.1:g.10207C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.656C>T MANE Select ENSP00000265340.6:p.Ser219Phe
ENST00000265340.11:c.656C>T ENSP00000265340.6:p.Ser219Phe
ENST00000506438.5:c.656C>T ENSP00000427542.1:p.Ser219Phe
NM_002653.4:c.656C>T NP_002644.4:p.Ser219Phe
NM_002653.5:c.656C>T MANE Select NP_002644.4:p.Ser219Phe
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