Canonical Allele Identifier: CA128009249
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs903880573
MyVariant Identifiers: chr5:g.134364538G>T (hg19) chr5:g.135028848G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028848G>T , CM000667.2:g.135028848G>T GRCh38
NC_000005.9:g.134364538G>T , CM000667.1:g.134364538G>T GRCh37
NC_000005.8:g.134392437G>T NCBI36
NG_012114.1:g.10427C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.876C>A MANE Select ENSP00000265340.6:p.His292Gln
ENST00000265340.11:c.876C>A ENSP00000265340.6:p.His292Gln
ENST00000506438.5:c.876C>A ENSP00000427542.1:p.His292Gln
NM_002653.4:c.876C>A NP_002644.4:p.His292Gln
NM_002653.5:c.876C>A MANE Select NP_002644.4:p.His292Gln
Search 100 bp 5'
Search 100 bp 3'