Canonical Allele Identifier: CA804232553
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1231084017
gnomAD v3: 5-135028598-T-C
gnomAD v4: 5-135028598-T-C
MyVariant Identifiers: chr5:g.134364288T>C (hg19) chr5:g.135028598T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028598T>C , CM000667.2:g.135028598T>C GRCh38
NC_000005.9:g.134364288T>C , CM000667.1:g.134364288T>C GRCh37
NC_000005.8:g.134392187T>C NCBI36
NG_012114.1:g.10677A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*181A>G MANE Select ENSP00000265340.6:n.*181A>G
ENST00000265340.11:c.*181A>G ENSP00000265340.6:n.*181A>G
ENST00000506438.5:c.*181A>G ENSP00000427542.1:n.*181A>G
NM_002653.4:c.*181A>G NP_002644.4:n.*181A>G
NM_002653.5:c.*181A>G MANE Select NP_002644.4:n.*181A>G
Search 100 bp 5'
Search 100 bp 3'