Canonical Allele Identifier: CA1584341420
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1420366377
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031090G>T , CM000667.2:g.135031090G>T GRCh38
NC_000005.9:g.134366780G>T , CM000667.1:g.134366780G>T GRCh37
NC_000005.8:g.134394679G>T NCBI36
NG_012114.1:g.8185C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.402+186C>A MANE Select ENSP00000265340.6:n.402+186C>A
ENST00000265340.11:c.402+186C>A ENSP00000265340.6:n.402+186C>A
ENST00000503586.1:c.524+186C>A
ENST00000504936.1:n.735+186C>A
ENST00000506438.5:c.402+186C>A ENSP00000427542.1:n.402+186C>A
NM_002653.4:c.402+186C>A NP_002644.4:n.402+186C>A
NM_002653.5:c.402+186C>A MANE Select NP_002644.4:n.402+186C>A
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