Canonical Allele Identifier: CA361028386
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134366978C>A (hg19) chr5:g.135031288C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031288C>A , CM000667.2:g.135031288C>A GRCh38
NC_000005.9:g.134366978C>A , CM000667.1:g.134366978C>A GRCh37
NC_000005.8:g.134394877C>A NCBI36
NG_012114.1:g.7987G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.390G>T MANE Select ENSP00000265340.6:p.Glu130Asp
ENST00000265340.11:c.390G>T ENSP00000265340.6:p.Glu130Asp
ENST00000503586.1:c.512G>T
ENST00000504936.1:n.723G>T
ENST00000506438.5:c.390G>T ENSP00000427542.1:p.Glu130Asp
ENST00000507253.5:c.390G>T ENSP00000422908.1:p.Glu130Asp
NM_002653.4:c.390G>T NP_002644.4:p.Glu130Asp
NM_002653.5:c.390G>T MANE Select NP_002644.4:p.Glu130Asp
Search 100 bp 5'
Search 100 bp 3'