Canonical Allele Identifier: CA1584336123
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1580924977

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028538A>T , CM000667.2:g.135028538A>T GRCh38
NC_000005.9:g.134364228A>T , CM000667.1:g.134364228A>T GRCh37
NC_000005.8:g.134392127A>T NCBI36
NG_012114.1:g.10737T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*241T>A MANE Select ENSP00000265340.6:n.*241T>A
ENST00000265340.11:c.*241T>A ENSP00000265340.6:n.*241T>A
NM_002653.4:c.*241T>A NP_002644.4:n.*241T>A
NM_002653.5:c.*241T>A MANE Select NP_002644.4:n.*241T>A