Canonical Allele Identifier: CA128009470
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3213305
ClinVar RCV Id: RCV004506208
dbSNP Id: rs943518762
gnomAD v2: 5-134364743-G-T
gnomAD v3: 5-135029053-G-T
gnomAD v4: 5-135029053-G-T
MyVariant Identifiers: chr5:g.134364743G>T (hg19) chr5:g.135029053G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135029053G>T , CM000667.2:g.135029053G>T GRCh38
NC_000005.9:g.134364743G>T , CM000667.1:g.134364743G>T GRCh37
NC_000005.8:g.134392642G>T NCBI36
NG_012114.1:g.10222C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.671C>A MANE Select ENSP00000265340.6:p.Thr224Asn
ENST00000265340.11:c.671C>A ENSP00000265340.6:p.Thr224Asn
ENST00000506438.5:c.671C>A ENSP00000427542.1:p.Thr224Asn
NM_002653.4:c.671C>A NP_002644.4:p.Thr224Asn
NM_002653.5:c.671C>A MANE Select NP_002644.4:p.Thr224Asn
Search 100 bp 5'
Search 100 bp 3'