Canonical Allele Identifier: CA446784419
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135029043-G-A
MyVariant Identifiers: chr5:g.134364733G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029043G>A , CM000667.2:g.135029043G>A GRCh38
NC_000005.9:g.134364733G>A , CM000667.1:g.134364733G>A GRCh37
NC_000005.8:g.134392632G>A NCBI36
NG_012114.1:g.10232C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.681C>T MANE Select ENSP00000265340.6:p.Ser227=
ENST00000265340.11:c.681C>T ENSP00000265340.6:p.Ser227=
ENST00000506438.5:c.681C>T ENSP00000427542.1:p.Ser227=
NM_002653.4:c.681C>T NP_002644.4:p.Ser227=
NM_002653.5:c.681C>T MANE Select NP_002644.4:p.Ser227=
Search 100 bp 5'
Search 100 bp 3'