Canonical Allele Identifier: CA128011616
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs531625965
gnomAD v3: 5-135031861-G-T
gnomAD v4: 5-135031861-G-T
MyVariant Identifiers: chr5:g.134367551G>T (hg19) chr5:g.135031861G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031861G>T , CM000667.2:g.135031861G>T GRCh38
NC_000005.9:g.134367551G>T , CM000667.1:g.134367551G>T GRCh37
NC_000005.8:g.134395450G>T NCBI36
NG_012114.1:g.7414C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.170-353C>A MANE Select ENSP00000265340.6:n.170-353C>A
ENST00000265340.11:c.170-353C>A ENSP00000265340.6:n.170-353C>A
ENST00000502676.1:c.170-353C>A ENSP00000423624.1:n.170-353C>A
ENST00000503586.1:c.292-353C>A
ENST00000504936.1:n.150C>A
ENST00000506438.5:c.170-353C>A ENSP00000427542.1:n.170-353C>A
ENST00000507253.5:c.170-353C>A ENSP00000422908.1:n.170-353C>A
NM_002653.4:c.170-353C>A NP_002644.4:n.170-353C>A
NM_002653.5:c.170-353C>A MANE Select NP_002644.4:n.170-353C>A
Search 100 bp 5'
Search 100 bp 3'