Canonical Allele Identifier: CA3417646
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs745731947
ExAC: 5:134367058 G / A
gnomAD v2: 5-134367058-G-A
gnomAD v3: 5-135031368-G-A
gnomAD v4: 5-135031368-G-A
MyVariant Identifiers: chr5:g.134367058G>A (hg19) chr5:g.135031368G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031368G>A , CM000667.2:g.135031368G>A GRCh38
NC_000005.9:g.134367058G>A , CM000667.1:g.134367058G>A GRCh37
NC_000005.8:g.134394957G>A NCBI36
NG_012114.1:g.7907C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.310C>T MANE Select ENSP00000265340.6:p.Leu104=
ENST00000265340.11:c.310C>T ENSP00000265340.6:p.Leu104=
ENST00000502676.1:c.310C>T ENSP00000423624.1:p.Leu104=
ENST00000503586.1:c.432C>T
ENST00000504936.1:n.643C>T
ENST00000506438.5:c.310C>T ENSP00000427542.1:p.Leu104=
ENST00000507253.5:c.310C>T ENSP00000422908.1:p.Leu104=
NM_002653.4:c.310C>T NP_002644.4:p.Leu104=
NM_002653.5:c.310C>T MANE Select NP_002644.4:p.Leu104=
Search 100 bp 5'
Search 100 bp 3'