Canonical Allele Identifier: CA361028504
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031338G>C , CM000667.2:g.135031338G>C GRCh38
NC_000005.9:g.134367028G>C , CM000667.1:g.134367028G>C GRCh37
NC_000005.8:g.134394927G>C NCBI36
NG_012114.1:g.7937C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.340C>G MANE Select ENSP00000265340.6:p.Pro114Ala
ENST00000265340.11:c.340C>G ENSP00000265340.6:p.Pro114Ala
ENST00000502676.1:c.340C>G ENSP00000423624.1:p.Pro114Ala
ENST00000503586.1:c.462C>G
ENST00000504936.1:n.673C>G
ENST00000506438.5:c.340C>G ENSP00000427542.1:p.Pro114Ala
ENST00000507253.5:c.340C>G ENSP00000422908.1:p.Pro114Ala
NM_002653.4:c.340C>G NP_002644.4:p.Pro114Ala
NM_002653.5:c.340C>G MANE Select NP_002644.4:p.Pro114Ala