Canonical Allele Identifier: CA361027285
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1319547128
MyVariant Identifiers: chr5:g.134364521C>T (hg19) chr5:g.135028831C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028831C>T , CM000667.2:g.135028831C>T GRCh38
NC_000005.9:g.134364521C>T , CM000667.1:g.134364521C>T GRCh37
NC_000005.8:g.134392420C>T NCBI36
NG_012114.1:g.10444G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.893G>A MANE Select ENSP00000265340.6:p.Gly298Asp
ENST00000265340.11:c.893G>A ENSP00000265340.6:p.Gly298Asp
ENST00000506438.5:c.893G>A ENSP00000427542.1:p.Gly298Asp
NM_002653.4:c.893G>A NP_002644.4:p.Gly298Asp
NM_002653.5:c.893G>A MANE Select NP_002644.4:p.Gly298Asp
Search 100 bp 5'
Search 100 bp 3'