Canonical Allele Identifier: CA361027790
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134364759A>C (hg19) chr5:g.135029069A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029069A>C , CM000667.2:g.135029069A>C GRCh38
NC_000005.9:g.134364759A>C , CM000667.1:g.134364759A>C GRCh37
NC_000005.8:g.134392658A>C NCBI36
NG_012114.1:g.10206T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.655T>G MANE Select ENSP00000265340.6:p.Ser219Ala
ENST00000265340.11:c.655T>G ENSP00000265340.6:p.Ser219Ala
ENST00000506438.5:c.655T>G ENSP00000427542.1:p.Ser219Ala
NM_002653.4:c.655T>G NP_002644.4:p.Ser219Ala
NM_002653.5:c.655T>G MANE Select NP_002644.4:p.Ser219Ala
Search 100 bp 5'
Search 100 bp 3'