Canonical Allele Identifier: CA804232531
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1353254259
gnomAD v3: 5-135028573-T-G
gnomAD v4: 5-135028573-T-G
MyVariant Identifiers: chr5:g.134364263T>G (hg19) chr5:g.135028573T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028573T>G , CM000667.2:g.135028573T>G GRCh38
NC_000005.9:g.134364263T>G , CM000667.1:g.134364263T>G GRCh37
NC_000005.8:g.134392162T>G NCBI36
NG_012114.1:g.10702A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*206A>C MANE Select ENSP00000265340.6:n.*206A>C
ENST00000265340.11:c.*206A>C ENSP00000265340.6:n.*206A>C
ENST00000506438.5:c.*206A>C ENSP00000427542.1:n.*206A>C
NM_002653.4:c.*206A>C NP_002644.4:n.*206A>C
NM_002653.5:c.*206A>C MANE Select NP_002644.4:n.*206A>C
Search 100 bp 5'
Search 100 bp 3'