Canonical Allele Identifier: CA2675354332
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135031857-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031857G>T , CM000667.2:g.135031857G>T GRCh38
NC_000005.9:g.134367547G>T , CM000667.1:g.134367547G>T GRCh37
NC_000005.8:g.134395446G>T NCBI36
NG_012114.1:g.7418C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.170-349C>A MANE Select ENSP00000265340.6:n.170-349C>A
ENST00000265340.11:c.170-349C>A ENSP00000265340.6:n.170-349C>A
ENST00000502676.1:c.170-349C>A ENSP00000423624.1:n.170-349C>A
ENST00000503586.1:c.292-349C>A
ENST00000504936.1:n.154C>A
ENST00000506438.5:c.170-349C>A ENSP00000427542.1:n.170-349C>A
ENST00000507253.5:c.170-349C>A ENSP00000422908.1:n.170-349C>A
NM_002653.4:c.170-349C>A NP_002644.4:n.170-349C>A
NM_002653.5:c.170-349C>A MANE Select NP_002644.4:n.170-349C>A
Search 100 bp 5'
Search 100 bp 3'