Canonical Allele Identifier: CA2675353273
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028404-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028404G>T , CM000667.2:g.135028404G>T GRCh38
NC_000005.9:g.134364094G>T , CM000667.1:g.134364094G>T GRCh37
NC_000005.8:g.134391993G>T NCBI36
NG_012114.1:g.10871C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*375C>A MANE Select ENSP00000265340.6:n.*375C>A
ENST00000265340.11:c.*375C>A ENSP00000265340.6:n.*375C>A
NM_002653.4:c.*375C>A NP_002644.4:n.*375C>A
NM_002653.5:c.*375C>A MANE Select NP_002644.4:n.*375C>A
Search 100 bp 5'
Search 100 bp 3'