Canonical Allele Identifier: CA2675353365
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028479-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028479A>T , CM000667.2:g.135028479A>T GRCh38
NC_000005.9:g.134364169A>T , CM000667.1:g.134364169A>T GRCh37
NC_000005.8:g.134392068A>T NCBI36
NG_012114.1:g.10796T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*300T>A MANE Select ENSP00000265340.6:n.*300T>A
ENST00000265340.11:c.*300T>A ENSP00000265340.6:n.*300T>A
NM_002653.4:c.*300T>A NP_002644.4:n.*300T>A
NM_002653.5:c.*300T>A MANE Select NP_002644.4:n.*300T>A
Search 100 bp 5'
Search 100 bp 3'