Canonical Allele Identifier: CA1584336146
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1752389767
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028549dup , CM000667.2:g.135028549dup GRCh38
NC_000005.9:g.134364239dup , CM000667.1:g.134364239dup GRCh37
NC_000005.8:g.134392138dup NCBI36
NG_012114.1:g.10726dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*230dup MANE Select ENSP00000265340.6:n.*230dup
ENST00000265340.11:c.*230dup ENSP00000265340.6:n.*230dup
NM_002653.4:c.*230dup NP_002644.4:n.*230dup
NM_002653.5:c.*230dup MANE Select NP_002644.4:n.*230dup
Search 100 bp 5'
Search 100 bp 3'