Canonical Allele Identifier: CA128009231
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs758279008
MyVariant Identifiers: chr5:g.134364533G>T (hg19) chr5:g.135028843G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028843G>T , CM000667.2:g.135028843G>T GRCh38
NC_000005.9:g.134364533G>T , CM000667.1:g.134364533G>T GRCh37
NC_000005.8:g.134392432G>T NCBI36
NG_012114.1:g.10432C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.881C>A MANE Select ENSP00000265340.6:p.Ser294Ter
ENST00000265340.11:c.881C>A ENSP00000265340.6:p.Ser294Ter
ENST00000506438.5:c.881C>A ENSP00000427542.1:p.Ser294Ter
NM_002653.4:c.881C>A NP_002644.4:p.Ser294Ter
NM_002653.5:c.881C>A MANE Select NP_002644.4:p.Ser294Ter
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