Canonical Allele Identifier: CA562836082
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1225060367
gnomAD v2: 5-134364274-A-G
gnomAD v3: 5-135028584-A-G
gnomAD v4: 5-135028584-A-G
MyVariant Identifiers: chr5:g.134364274A>G (hg19) chr5:g.135028584A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028584A>G , CM000667.2:g.135028584A>G GRCh38
NC_000005.9:g.134364274A>G , CM000667.1:g.134364274A>G GRCh37
NC_000005.8:g.134392173A>G NCBI36
NG_012114.1:g.10691T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*195T>C MANE Select ENSP00000265340.6:n.*195T>C
ENST00000265340.11:c.*195T>C ENSP00000265340.6:n.*195T>C
ENST00000506438.5:c.*195T>C ENSP00000427542.1:n.*195T>C
NM_002653.4:c.*195T>C NP_002644.4:n.*195T>C
NM_002653.5:c.*195T>C MANE Select NP_002644.4:n.*195T>C
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