Canonical Allele Identifier: CA1584336010
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1252323182
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028395C>G , CM000667.2:g.135028395C>G GRCh38
NC_000005.9:g.134364085C>G , CM000667.1:g.134364085C>G GRCh37
NC_000005.8:g.134391984C>G NCBI36
NG_012114.1:g.10880G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*384G>C MANE Select ENSP00000265340.6:n.*384G>C
ENST00000265340.11:c.*384G>C ENSP00000265340.6:n.*384G>C
NM_002653.4:c.*384G>C NP_002644.4:n.*384G>C
NM_002653.5:c.*384G>C MANE Select NP_002644.4:n.*384G>C
Search 100 bp 5'
Search 100 bp 3'