Canonical Allele Identifier: CA361027529
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028946-C-G
MyVariant Identifiers: chr5:g.134364636C>G (hg19) chr5:g.135028946C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028946C>G , CM000667.2:g.135028946C>G GRCh38
NC_000005.9:g.134364636C>G , CM000667.1:g.134364636C>G GRCh37
NC_000005.8:g.134392535C>G NCBI36
NG_012114.1:g.10329G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.778G>C MANE Select ENSP00000265340.6:p.Gly260Arg
ENST00000265340.11:c.778G>C ENSP00000265340.6:p.Gly260Arg
ENST00000506438.5:c.778G>C ENSP00000427542.1:p.Gly260Arg
NM_002653.4:c.778G>C NP_002644.4:p.Gly260Arg
NM_002653.5:c.778G>C MANE Select NP_002644.4:p.Gly260Arg
Search 100 bp 5'
Search 100 bp 3'