Canonical Allele Identifier: CA446784441
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134364766T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029076T>A , CM000667.2:g.135029076T>A GRCh38
NC_000005.9:g.134364766T>A , CM000667.1:g.134364766T>A GRCh37
NC_000005.8:g.134392665T>A NCBI36
NG_012114.1:g.10199A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.648A>T MANE Select ENSP00000265340.6:p.Ala216=
ENST00000265340.11:c.648A>T ENSP00000265340.6:p.Ala216=
ENST00000506438.5:c.648A>T ENSP00000427542.1:p.Ala216=
NM_002653.4:c.648A>T NP_002644.4:p.Ala216=
NM_002653.5:c.648A>T MANE Select NP_002644.4:p.Ala216=
Search 100 bp 5'
Search 100 bp 3'