Canonical Allele Identifier: CA804235656
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1317365595
gnomAD v3: 5-135031852-T-G
gnomAD v4: 5-135031852-T-G
MyVariant Identifiers: chr5:g.134367542T>G (hg19) chr5:g.135031852T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031852T>G , CM000667.2:g.135031852T>G GRCh38
NC_000005.9:g.134367542T>G , CM000667.1:g.134367542T>G GRCh37
NC_000005.8:g.134395441T>G NCBI36
NG_012114.1:g.7423A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.170-344A>C MANE Select ENSP00000265340.6:n.170-344A>C
ENST00000265340.11:c.170-344A>C ENSP00000265340.6:n.170-344A>C
ENST00000502676.1:c.170-344A>C ENSP00000423624.1:n.170-344A>C
ENST00000503586.1:c.292-344A>C
ENST00000504936.1:n.159A>C
ENST00000506438.5:c.170-344A>C ENSP00000427542.1:n.170-344A>C
ENST00000507253.5:c.170-344A>C ENSP00000422908.1:n.170-344A>C
NM_002653.4:c.170-344A>C NP_002644.4:n.170-344A>C
NM_002653.5:c.170-344A>C MANE Select NP_002644.4:n.170-344A>C
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