Canonical Allele Identifier: CA361027317
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1303886235
gnomAD v2: 5-134364536-G-T
gnomAD v4: 5-135028846-G-T
MyVariant Identifiers: chr5:g.134364536G>T (hg19) chr5:g.135028846G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028846G>T , CM000667.2:g.135028846G>T GRCh38
NC_000005.9:g.134364536G>T , CM000667.1:g.134364536G>T GRCh37
NC_000005.8:g.134392435G>T NCBI36
NG_012114.1:g.10429C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.878C>A MANE Select ENSP00000265340.6:p.Ser293Ter
ENST00000265340.11:c.878C>A ENSP00000265340.6:p.Ser293Ter
ENST00000506438.5:c.878C>A ENSP00000427542.1:p.Ser293Ter
NM_002653.4:c.878C>A NP_002644.4:p.Ser293Ter
NM_002653.5:c.878C>A MANE Select NP_002644.4:p.Ser293Ter
Search 100 bp 5'
Search 100 bp 3'