Canonical Allele Identifier: CA2675353912
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135031141-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031141C>G , CM000667.2:g.135031141C>G GRCh38
NC_000005.9:g.134366831C>G , CM000667.1:g.134366831C>G GRCh37
NC_000005.8:g.134394730C>G NCBI36
NG_012114.1:g.8134G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.402+135G>C MANE Select ENSP00000265340.6:n.402+135G>C
ENST00000265340.11:c.402+135G>C ENSP00000265340.6:n.402+135G>C
ENST00000503586.1:c.524+135G>C
ENST00000504936.1:n.735+135G>C
ENST00000506438.5:c.402+135G>C ENSP00000427542.1:n.402+135G>C
NM_002653.4:c.402+135G>C NP_002644.4:n.402+135G>C
NM_002653.5:c.402+135G>C MANE Select NP_002644.4:n.402+135G>C
Search 100 bp 5'
Search 100 bp 3'