Canonical Allele Identifier: CA361027245
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2621856
ClinVar RCV Id: RCV004362053

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028810G>A , CM000667.2:g.135028810G>A GRCh38
NC_000005.9:g.134364500G>A , CM000667.1:g.134364500G>A GRCh37
NC_000005.8:g.134392399G>A NCBI36
NG_012114.1:g.10465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.914C>T MANE Select ENSP00000265340.6:p.Ser305Leu
ENST00000265340.11:c.914C>T ENSP00000265340.6:p.Ser305Leu
ENST00000506438.5:c.914C>T ENSP00000427542.1:p.Ser305Leu
NM_002653.4:c.914C>T NP_002644.4:p.Ser305Leu
NM_002653.5:c.914C>T MANE Select NP_002644.4:p.Ser305Leu