Canonical Allele Identifier: CA446784540
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135031297-G-A
MyVariant Identifiers: chr5:g.134366987G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031297G>A , CM000667.2:g.135031297G>A GRCh38
NC_000005.9:g.134366987G>A , CM000667.1:g.134366987G>A GRCh37
NC_000005.8:g.134394886G>A NCBI36
NG_012114.1:g.7978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.381C>T MANE Select ENSP00000265340.6:p.Asn127=
ENST00000265340.11:c.381C>T ENSP00000265340.6:p.Asn127=
ENST00000503586.1:c.503C>T
ENST00000504936.1:n.714C>T
ENST00000506438.5:c.381C>T ENSP00000427542.1:p.Asn127=
ENST00000507253.5:c.381C>T ENSP00000422908.1:p.Asn127=
NM_002653.4:c.381C>T NP_002644.4:p.Asn127=
NM_002653.5:c.381C>T MANE Select NP_002644.4:p.Asn127=
Search 100 bp 5'
Search 100 bp 3'