Canonical Allele Identifier: CA12160085
Gene: PITX1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs31198
gnomAD v2: 5-134372685-T-C
gnomAD v3: 5-135036995-T-C
gnomAD v4: 5-135036995-T-C
MyVariant Identifiers: chr5:g.134372685T>C (hg19) chr5:g.135036995T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135036995T>C , CM000667.2:g.135036995T>C GRCh38
NC_000005.9:g.134372685T>C , CM000667.1:g.134372685T>C GRCh37
NC_000005.8:g.134400584T>C NCBI36
NG_012114.1:g.2280A>G

Transcript Alleles

HGVS Amino-acid change
NM_001277348.1:c.-562+3455T>C NP_001264277.1:n.-562+3455T>C
NR_161235.1:n.267+3455T>C
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