Canonical Allele Identifier: CA3417547
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs764013997
ExAC: 5:134364626 G / C
gnomAD v4: 5-135028936-G-C
MyVariant Identifiers: chr5:g.134364626G>C (hg19) chr5:g.135028936G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028936G>C , CM000667.2:g.135028936G>C GRCh38
NC_000005.9:g.134364626G>C , CM000667.1:g.134364626G>C GRCh37
NC_000005.8:g.134392525G>C NCBI36
NG_012114.1:g.10339C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.788C>G MANE Select ENSP00000265340.6:p.Pro263Arg
ENST00000265340.11:c.788C>G ENSP00000265340.6:p.Pro263Arg
ENST00000506438.5:c.788C>G ENSP00000427542.1:p.Pro263Arg
NM_002653.4:c.788C>G NP_002644.4:p.Pro263Arg
NM_002653.5:c.788C>G MANE Select NP_002644.4:p.Pro263Arg
Search 100 bp 5'
Search 100 bp 3'