Canonical Allele Identifier: CA2675353325
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028449-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028449G>A , CM000667.2:g.135028449G>A GRCh38
NC_000005.9:g.134364139G>A , CM000667.1:g.134364139G>A GRCh37
NC_000005.8:g.134392038G>A NCBI36
NG_012114.1:g.10826C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*330C>T MANE Select ENSP00000265340.6:n.*330C>T
ENST00000265340.11:c.*330C>T ENSP00000265340.6:n.*330C>T
NM_002653.4:c.*330C>T NP_002644.4:n.*330C>T
NM_002653.5:c.*330C>T MANE Select NP_002644.4:n.*330C>T
Search 100 bp 5'
Search 100 bp 3'