Canonical Allele Identifier: CA2675353496
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028613-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028613A>C , CM000667.2:g.135028613A>C GRCh38
NC_000005.9:g.134364303A>C , CM000667.1:g.134364303A>C GRCh37
NC_000005.8:g.134392202A>C NCBI36
NG_012114.1:g.10662T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*166T>G MANE Select ENSP00000265340.6:n.*166T>G
ENST00000265340.11:c.*166T>G ENSP00000265340.6:n.*166T>G
ENST00000506438.5:c.*166T>G ENSP00000427542.1:n.*166T>G
NM_002653.4:c.*166T>G NP_002644.4:n.*166T>G
NM_002653.5:c.*166T>G MANE Select NP_002644.4:n.*166T>G
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