Canonical Allele Identifier: CA1584336030
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1752385713
gnomAD v4: 5-135028420-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028420T>A , CM000667.2:g.135028420T>A GRCh38
NC_000005.9:g.134364110T>A , CM000667.1:g.134364110T>A GRCh37
NC_000005.8:g.134392009T>A NCBI36
NG_012114.1:g.10855A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*359A>T MANE Select ENSP00000265340.6:n.*359A>T
ENST00000265340.11:c.*359A>T ENSP00000265340.6:n.*359A>T
NM_002653.4:c.*359A>T NP_002644.4:n.*359A>T
NM_002653.5:c.*359A>T MANE Select NP_002644.4:n.*359A>T
Search 100 bp 5'
Search 100 bp 3'