Canonical Allele Identifier: CA446781668
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028824-C-A
MyVariant Identifiers: chr5:g.134364514C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028824C>A , CM000667.2:g.135028824C>A GRCh38
NC_000005.9:g.134364514C>A , CM000667.1:g.134364514C>A GRCh37
NC_000005.8:g.134392413C>A NCBI36
NG_012114.1:g.10451G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.900G>T MANE Select ENSP00000265340.6:p.Leu300=
ENST00000265340.11:c.900G>T ENSP00000265340.6:p.Leu300=
ENST00000506438.5:c.900G>T ENSP00000427542.1:p.Leu300=
NM_002653.4:c.900G>T NP_002644.4:p.Leu300=
NM_002653.5:c.900G>T MANE Select NP_002644.4:p.Leu300=
Search 100 bp 5'
Search 100 bp 3'