Canonical Allele Identifier: CA1028946508
Gene: GALNT14 HGNC NCBI

Linked Data

dbSNP Id: rs1676735405
gnomAD v3: 2-31091494-C-T
gnomAD v4: 2-31091494-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31091494C>T , CM000664.2:g.31091494C>T GRCh38
NC_000002.11:g.31314360C>T , CM000664.1:g.31314360C>T GRCh37
NC_000002.10:g.31167864C>T NCBI36
NG_051040.1:g.52233G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349752.10:c.129+46464G>A MANE Select ENSP00000288988.6:n.129+46464G>A
ENST00000324589.9:c.314+23249G>A ENSP00000314500.5:n.314+23249G>A
ENST00000349752.9:c.129+46464G>A ENSP00000288988.6:n.129+46464G>A
ENST00000406653.5:c.69+23249G>A ENSP00000385435.1:n.69+23249G>A
ENST00000424136.5:c.181+41136G>A
ENST00000430167.1:c.129+46464G>A ENSP00000406399.1:n.129+46464G>A
ENST00000455477.5:c.198+33660G>A
ENST00000461193.5:n.164+33660G>A
ENST00000464038.5:n.388+55428G>A
ENST00000485468.1:n.158-12428G>A
ENST00000490212.5:n.364+37783G>A
ENST00000496397.5:n.202-18319G>A
ENST00000498206.5:n.358+23249G>A
NM_001253826.1:c.314+23249G>A NP_001240755.1:n.314+23249G>A
NM_001253827.1:c.69+23249G>A NP_001240756.1:n.69+23249G>A
NM_024572.3:c.129+46464G>A NP_078848.2:n.129+46464G>A
NR_045602.1:n.770-12428G>A
XM_011533104.1:c.315-12428G>A XP_011531406.1:n.315-12428G>A
XM_011533105.1:c.69+23249G>A XP_011531407.1:n.69+23249G>A
XM_011533106.1:c.42+55428G>A XP_011531408.1:n.42+55428G>A
NM_001329095.1:c.-109-12428G>A NP_001316024.1:n.-109-12428G>A
NM_001329096.1:c.69+23249G>A NP_001316025.1:n.69+23249G>A
NM_001329097.1:c.129+46464G>A NP_001316026.1:n.129+46464G>A
NM_024572.4:c.129+46464G>A MANE Select NP_078848.2:n.129+46464G>A
NM_001253826.2:c.314+23249G>A NP_001240755.1:n.314+23249G>A
NM_001329095.2:c.-109-12428G>A NP_001316024.1:n.-109-12428G>A
NM_001329096.2:c.69+23249G>A NP_001316025.1:n.69+23249G>A
NM_001329097.2:c.129+46464G>A NP_001316026.1:n.129+46464G>A
NM_001253827.2:c.69+23249G>A NP_001240756.1:n.69+23249G>A