Canonical Allele Identifier: CA446782040
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134364589C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028899C>T , CM000667.2:g.135028899C>T GRCh38
NC_000005.9:g.134364589C>T , CM000667.1:g.134364589C>T GRCh37
NC_000005.8:g.134392488C>T NCBI36
NG_012114.1:g.10376G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.825G>A MANE Select ENSP00000265340.6:p.Arg275=
ENST00000265340.11:c.825G>A ENSP00000265340.6:p.Arg275=
ENST00000506438.5:c.825G>A ENSP00000427542.1:p.Arg275=
NM_002653.4:c.825G>A NP_002644.4:p.Arg275=
NM_002653.5:c.825G>A MANE Select NP_002644.4:p.Arg275=