Canonical Allele Identifier: CA12883963
Gene: DCSTAMP HGNC NCBI
DPYS HGNC NCBI

Linked Data

dbSNP Id: rs2458413
gnomAD v2: 8-105359432-C-T
gnomAD v3: 8-104347204-C-T
gnomAD v4: 8-104347204-C-T
MyVariant Identifiers: chr8:g.105359432C>T (hg19) chr8:g.104347204C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104347204C>T , CM000670.2:g.104347204C>T GRCh38
NC_000008.10:g.105359432C>T , CM000670.1:g.105359432C>T GRCh37
NC_000008.9:g.105428608C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297581.2:c.-12-1337C>T (DCSTAMP) MANE Select ENSP00000297581.2:n.-12-1337C>T
ENST00000517364.1:n.330-1337C>T (DCSTAMP)
ENST00000518023.5:n.192-1337C>T (DCSTAMP)
ENST00000519562.1:n.437-1337C>T (DCSTAMP)
ENST00000521601.1:n.329-15240G>A (DPYS)
ENST00000622554.1:c.-12-1337C>T (DCSTAMP) ENSP00000480546.1:n.-12-1337C>T
NM_001257317.1:c.-12-1337C>T (DCSTAMP) NP_001244246.1:n.-12-1337C>T
NM_030788.3:c.-12-1337C>T (DCSTAMP) NP_110415.1:n.-12-1337C>T
XM_005251075.1:c.-12-1337C>T (DCSTAMP) XP_005251132.1:n.-12-1337C>T
XM_011517321.1:c.-12-1337C>T (DCSTAMP) XP_011515623.1:n.-12-1337C>T
XM_011517322.1:c.-12-1337C>T (DCSTAMP) XP_011515624.1:n.-12-1337C>T
XM_011517323.1:c.-12-1337C>T (DCSTAMP) XP_011515625.1:n.-12-1337C>T
XM_011517324.1:c.-12-1337C>T (DCSTAMP) XP_011515626.1:n.-12-1337C>T
XM_024447288.1:c.-12-1337C>T (DCSTAMP) XP_024303056.1:n.-12-1337C>T
XM_024447289.1:c.-12-1337C>T (DCSTAMP) XP_024303057.1:n.-12-1337C>T
XM_024447290.1:c.-12-1337C>T (DCSTAMP) XP_024303058.1:n.-12-1337C>T
NM_030788.4:c.-12-1337C>T (DCSTAMP) MANE Select NP_110415.1:n.-12-1337C>T
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