Canonical Allele Identifier: CA361028525
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134367036T>G (hg19) chr5:g.135031346T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031346T>G , CM000667.2:g.135031346T>G GRCh38
NC_000005.9:g.134367036T>G , CM000667.1:g.134367036T>G GRCh37
NC_000005.8:g.134394935T>G NCBI36
NG_012114.1:g.7929A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.332A>C MANE Select ENSP00000265340.6:p.Asn111Thr
ENST00000265340.11:c.332A>C ENSP00000265340.6:p.Asn111Thr
ENST00000502676.1:c.332A>C ENSP00000423624.1:p.Asn111Thr
ENST00000503586.1:c.454A>C
ENST00000504936.1:n.665A>C
ENST00000506438.5:c.332A>C ENSP00000427542.1:p.Asn111Thr
ENST00000507253.5:c.332A>C ENSP00000422908.1:p.Asn111Thr
NM_002653.4:c.332A>C NP_002644.4:p.Asn111Thr
NM_002653.5:c.332A>C MANE Select NP_002644.4:p.Asn111Thr
Search 100 bp 5'
Search 100 bp 3'