Canonical Allele Identifier: CA128011509
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs546829135
gnomAD v3: 5-135031661-C-T
gnomAD v4: 5-135031661-C-T
MyVariant Identifiers: chr5:g.134367351C>T (hg19) chr5:g.135031661C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031661C>T , CM000667.2:g.135031661C>T GRCh38
NC_000005.9:g.134367351C>T , CM000667.1:g.134367351C>T GRCh37
NC_000005.8:g.134395250C>T NCBI36
NG_012114.1:g.7614G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.170-153G>A MANE Select ENSP00000265340.6:n.170-153G>A
ENST00000265340.11:c.170-153G>A ENSP00000265340.6:n.170-153G>A
ENST00000502676.1:c.170-153G>A ENSP00000423624.1:n.170-153G>A
ENST00000503586.1:c.292-153G>A
ENST00000504936.1:n.350G>A
ENST00000506438.5:c.170-153G>A ENSP00000427542.1:n.170-153G>A
ENST00000507253.5:c.170-153G>A ENSP00000422908.1:n.170-153G>A
NM_002653.4:c.170-153G>A NP_002644.4:n.170-153G>A
NM_002653.5:c.170-153G>A MANE Select NP_002644.4:n.170-153G>A
Search 100 bp 5'
Search 100 bp 3'