Canonical Allele Identifier: CA2675353335
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028456-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028456G>T , CM000667.2:g.135028456G>T GRCh38
NC_000005.9:g.134364146G>T , CM000667.1:g.134364146G>T GRCh37
NC_000005.8:g.134392045G>T NCBI36
NG_012114.1:g.10819C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*323C>A MANE Select ENSP00000265340.6:n.*323C>A
ENST00000265340.11:c.*323C>A ENSP00000265340.6:n.*323C>A
NM_002653.4:c.*323C>A NP_002644.4:n.*323C>A
NM_002653.5:c.*323C>A MANE Select NP_002644.4:n.*323C>A
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