Canonical Allele Identifier: CA3417515
Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2548465
ClinVar RCV Id: RCV004321509
dbSNP Id: rs535075716

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028798G>C , CM000667.2:g.135028798G>C GRCh38
NC_000005.9:g.134364488G>C , CM000667.1:g.134364488G>C GRCh37
NC_000005.8:g.134392387G>C NCBI36
NG_012114.1:g.10477C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.926C>G MANE Select ENSP00000265340.6:p.Ala309Gly
ENST00000265340.11:c.926C>G ENSP00000265340.6:p.Ala309Gly
ENST00000506438.5:c.926C>G ENSP00000427542.1:p.Ala309Gly
NM_002653.4:c.926C>G NP_002644.4:p.Ala309Gly
NM_002653.5:c.926C>G MANE Select NP_002644.4:p.Ala309Gly