Canonical Allele Identifier: CA361028528
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134367037T>C (hg19) chr5:g.135031347T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031347T>C , CM000667.2:g.135031347T>C GRCh38
NC_000005.9:g.134367037T>C , CM000667.1:g.134367037T>C GRCh37
NC_000005.8:g.134394936T>C NCBI36
NG_012114.1:g.7928A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.331A>G MANE Select ENSP00000265340.6:p.Asn111Asp
ENST00000265340.11:c.331A>G ENSP00000265340.6:p.Asn111Asp
ENST00000502676.1:c.331A>G ENSP00000423624.1:p.Asn111Asp
ENST00000503586.1:c.453A>G
ENST00000504936.1:n.664A>G
ENST00000506438.5:c.331A>G ENSP00000427542.1:p.Asn111Asp
ENST00000507253.5:c.331A>G ENSP00000422908.1:p.Asn111Asp
NM_002653.4:c.331A>G NP_002644.4:p.Asn111Asp
NM_002653.5:c.331A>G MANE Select NP_002644.4:p.Asn111Asp
Search 100 bp 5'
Search 100 bp 3'