Canonical Allele Identifier: CA804232377
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1385776382
MyVariant Identifiers: chr5:g.134364210T>C (hg19) chr5:g.135028520T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028520T>C , CM000667.2:g.135028520T>C GRCh38
NC_000005.9:g.134364210T>C , CM000667.1:g.134364210T>C GRCh37
NC_000005.8:g.134392109T>C NCBI36
NG_012114.1:g.10755A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*259A>G MANE Select ENSP00000265340.6:n.*259A>G
ENST00000265340.11:c.*259A>G ENSP00000265340.6:n.*259A>G
NM_002653.4:c.*259A>G NP_002644.4:n.*259A>G
NM_002653.5:c.*259A>G MANE Select NP_002644.4:n.*259A>G
Search 100 bp 5'
Search 100 bp 3'