Canonical Allele Identifier: CA361027319
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028847-A-G
MyVariant Identifiers: chr5:g.134364537A>G (hg19) chr5:g.135028847A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028847A>G , CM000667.2:g.135028847A>G GRCh38
NC_000005.9:g.134364537A>G , CM000667.1:g.134364537A>G GRCh37
NC_000005.8:g.134392436A>G NCBI36
NG_012114.1:g.10428T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.877T>C MANE Select ENSP00000265340.6:p.Ser293Pro
ENST00000265340.11:c.877T>C ENSP00000265340.6:p.Ser293Pro
ENST00000506438.5:c.877T>C ENSP00000427542.1:p.Ser293Pro
NM_002653.4:c.877T>C NP_002644.4:p.Ser293Pro
NM_002653.5:c.877T>C MANE Select NP_002644.4:p.Ser293Pro
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