Canonical Allele Identifier: CA361027479
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028921-G-T
MyVariant Identifiers: chr5:g.134364611G>T (hg19) chr5:g.135028921G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028921G>T , CM000667.2:g.135028921G>T GRCh38
NC_000005.9:g.134364611G>T , CM000667.1:g.134364611G>T GRCh37
NC_000005.8:g.134392510G>T NCBI36
NG_012114.1:g.10354C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.803C>A MANE Select ENSP00000265340.6:p.Ala268Asp
ENST00000265340.11:c.803C>A ENSP00000265340.6:p.Ala268Asp
ENST00000506438.5:c.803C>A ENSP00000427542.1:p.Ala268Asp
NM_002653.4:c.803C>A NP_002644.4:p.Ala268Asp
NM_002653.5:c.803C>A MANE Select NP_002644.4:p.Ala268Asp
Search 100 bp 5'
Search 100 bp 3'