Canonical Allele Identifier: CA1127207919
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs933264675
gnomAD v3: 9-97851850-C-A
gnomAD v4: 9-97851850-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851850C>A , CM000671.2:g.97851850C>A GRCh38
NC_000009.11:g.100614132C>A , CM000671.1:g.100614132C>A GRCh37
NC_000009.10:g.99653953C>A NCBI36
NG_011979.1:g.3596C>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1026G>T
XR_930159.1:n.218+1026G>T
XR_930160.1:n.218+1026G>T
XR_930161.1:n.218+1026G>T
NR_147055.1:n.165+1066G>T
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