Canonical Allele Identifier: CA1127207979
Gene: PTCSC2 HGNC NCBI

Linked Data

gnomAD v3: 9-97851896-T-G
gnomAD v4: 9-97851896-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851896T>G , CM000671.2:g.97851896T>G GRCh38
NC_000009.11:g.100614178T>G , CM000671.1:g.100614178T>G GRCh37
NC_000009.10:g.99653999T>G NCBI36
NG_011979.1:g.3642T>G

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+980A>C
XR_930159.1:n.218+980A>C
XR_930160.1:n.218+980A>C
XR_930161.1:n.218+980A>C
NR_147055.1:n.165+1020A>C
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