Canonical Allele Identifier: CA128008959
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs111319441
gnomAD v3: 5-135028549-C-T
gnomAD v4: 5-135028549-C-T
MyVariant Identifiers: chr5:g.134364239C>T (hg19) chr5:g.135028549C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028549C>T , CM000667.2:g.135028549C>T GRCh38
NC_000005.9:g.134364239C>T , CM000667.1:g.134364239C>T GRCh37
NC_000005.8:g.134392138C>T NCBI36
NG_012114.1:g.10726G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*230G>A MANE Select ENSP00000265340.6:n.*230G>A
ENST00000265340.11:c.*230G>A ENSP00000265340.6:n.*230G>A
NM_002653.4:c.*230G>A NP_002644.4:n.*230G>A
NM_002653.5:c.*230G>A MANE Select NP_002644.4:n.*230G>A
Search 100 bp 5'
Search 100 bp 3'