Canonical Allele Identifier: CA3525897
Gene: GALNT10 HGNC NCBI
MIR1294 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.154347209A>G
GRCh37 chr5:g.153726769A>G
gnomAD v2:
5:153726769 A / G
gnomAD v3:
5:154347209 A / G
gnomAD v4:
chr5-154347209-A-G
Joint Max Group AF 0.02943516 (SAS)
Genomes Max Group AF 0.02659692 (SAS)
Exomes Max Group AF 0.02937707 (SAS)
dbSNP:
13186787
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154347209A>G , CM000667.2:g.154347209A>G GRCh38
NC_000005.9:g.153726769A>G , CM000667.1:g.153726769A>G GRCh37
NC_000005.8:g.153706962A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297107.11:c.568+17471A>G (GALNT10) MANE Select ENSP00000297107.6:n.568+17471A>G
ENST00000297107.10:c.568+17471A>G (GALNT10) ENSP00000297107.6:n.568+17471A>G
ENST00000377661.2:c.568+17471A>G (GALNT10) ENSP00000366889.2:n.568+17471A>G
ENST00000425427.6:c.568+17471A>G (GALNT10) ENSP00000415210.2:n.568+17471A>G
ENST00000519571.1:n.454+17471A>G (GALNT10)
ENST00000520647.5:c.569-8944A>G (GALNT10) ENSP00000428573.1:n.569-8944A>G
ENST00000521781.5:n.559+17471A>G (GALNT10)
NM_198321.3:c.568+17471A>G (GALNT10) NP_938080.1:n.568+17471A>G
NR_031626.1:n.104A>G (MIR1294)
NM_198321.4:c.568+17471A>G (GALNT10) MANE Select NP_938080.1:n.568+17471A>G
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