Canonical Allele Identifier: CA1081831490
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1580925063
gnomAD v3: 5-135028591-A-G
gnomAD v4: 5-135028591-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028591A>G , CM000667.2:g.135028591A>G GRCh38
NC_000005.9:g.134364281A>G , CM000667.1:g.134364281A>G GRCh37
NC_000005.8:g.134392180A>G NCBI36
NG_012114.1:g.10684T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*188T>C MANE Select ENSP00000265340.6:n.*188T>C
ENST00000265340.11:c.*188T>C ENSP00000265340.6:n.*188T>C
ENST00000506438.5:c.*188T>C ENSP00000427542.1:n.*188T>C
NM_002653.4:c.*188T>C NP_002644.4:n.*188T>C
NM_002653.5:c.*188T>C MANE Select NP_002644.4:n.*188T>C
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