Canonical Allele Identifier: CA361027300
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1300941744
gnomAD v2: 5-134364527-C-A
gnomAD v4: 5-135028837-C-A
MyVariant Identifiers: chr5:g.134364527C>A (hg19) chr5:g.135028837C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028837C>A , CM000667.2:g.135028837C>A GRCh38
NC_000005.9:g.134364527C>A , CM000667.1:g.134364527C>A GRCh37
NC_000005.8:g.134392426C>A NCBI36
NG_012114.1:g.10438G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.887G>T MANE Select ENSP00000265340.6:p.Gly296Val
ENST00000265340.11:c.887G>T ENSP00000265340.6:p.Gly296Val
ENST00000506438.5:c.887G>T ENSP00000427542.1:p.Gly296Val
NM_002653.4:c.887G>T NP_002644.4:p.Gly296Val
NM_002653.5:c.887G>T MANE Select NP_002644.4:p.Gly296Val
Search 100 bp 5'
Search 100 bp 3'