Canonical Allele Identifier: CA2675353266
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028399C>A , CM000667.2:g.135028399C>A GRCh38
NC_000005.9:g.134364089C>A , CM000667.1:g.134364089C>A GRCh37
NC_000005.8:g.134391988C>A NCBI36
NG_012114.1:g.10876G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*380G>T MANE Select ENSP00000265340.6:n.*380G>T
ENST00000265340.11:c.*380G>T ENSP00000265340.6:n.*380G>T
NM_002653.4:c.*380G>T NP_002644.4:n.*380G>T
NM_002653.5:c.*380G>T MANE Select NP_002644.4:n.*380G>T