Canonical Allele Identifier: CA361027439
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028902G>T , CM000667.2:g.135028902G>T GRCh38
NC_000005.9:g.134364592G>T , CM000667.1:g.134364592G>T GRCh37
NC_000005.8:g.134392491G>T NCBI36
NG_012114.1:g.10373C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.822C>A MANE Select ENSP00000265340.6:p.Tyr274Ter
ENST00000265340.11:c.822C>A ENSP00000265340.6:p.Tyr274Ter
ENST00000506438.5:c.822C>A ENSP00000427542.1:p.Tyr274Ter
NM_002653.4:c.822C>A NP_002644.4:p.Tyr274Ter
NM_002653.5:c.822C>A MANE Select NP_002644.4:p.Tyr274Ter