Canonical Allele Identifier: CA2675354233
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031737C>G , CM000667.2:g.135031737C>G GRCh38
NC_000005.9:g.134367427C>G , CM000667.1:g.134367427C>G GRCh37
NC_000005.8:g.134395326C>G NCBI36
NG_012114.1:g.7538G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.170-229G>C MANE Select ENSP00000265340.6:n.170-229G>C
ENST00000265340.11:c.170-229G>C ENSP00000265340.6:n.170-229G>C
ENST00000502676.1:c.170-229G>C ENSP00000423624.1:n.170-229G>C
ENST00000503586.1:c.292-229G>C
ENST00000504936.1:n.274G>C
ENST00000506438.5:c.170-229G>C ENSP00000427542.1:n.170-229G>C
ENST00000507253.5:c.170-229G>C ENSP00000422908.1:n.170-229G>C
NM_002653.4:c.170-229G>C NP_002644.4:n.170-229G>C
NM_002653.5:c.170-229G>C MANE Select NP_002644.4:n.170-229G>C