Canonical Allele Identifier: CA1028938678
Gene: GALNT14 HGNC NCBI

Linked Data

dbSNP Id: rs774459058
gnomAD v3: 2-31074620-G-C
gnomAD v4: 2-31074620-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31074620G>C , CM000664.2:g.31074620G>C GRCh38
NC_000002.11:g.31297486G>C , CM000664.1:g.31297486G>C GRCh37
NC_000002.10:g.31150990G>C NCBI36
NG_051040.1:g.69107C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349752.10:c.129+63338C>G MANE Select ENSP00000288988.6:n.129+63338C>G
ENST00000324589.9:c.314+40123C>G ENSP00000314500.5:n.314+40123C>G
ENST00000349752.9:c.129+63338C>G ENSP00000288988.6:n.129+63338C>G
ENST00000406653.5:c.69+40123C>G ENSP00000385435.1:n.69+40123C>G
ENST00000424136.5:c.181+58010C>G
ENST00000430167.1:c.129+63338C>G ENSP00000406399.1:n.129+63338C>G
ENST00000455477.5:c.198+50534C>G
ENST00000461193.5:n.164+50534C>G
ENST00000464038.5:n.388+72302C>G
ENST00000485468.1:n.290+4314C>G
ENST00000490212.5:n.364+54657C>G
ENST00000496397.5:n.202-1445C>G
ENST00000498206.5:n.358+40123C>G
NM_001253826.1:c.314+40123C>G NP_001240755.1:n.314+40123C>G
NM_001253827.1:c.69+40123C>G NP_001240756.1:n.69+40123C>G
NM_024572.3:c.129+63338C>G NP_078848.2:n.129+63338C>G
NR_045602.1:n.902+4314C>G
XM_011533104.1:c.447+4314C>G XP_011531406.1:n.447+4314C>G
XM_011533105.1:c.69+40123C>G XP_011531407.1:n.69+40123C>G
XM_011533106.1:c.42+72302C>G XP_011531408.1:n.42+72302C>G
NM_001329095.1:c.24+4314C>G NP_001316024.1:n.24+4314C>G
NM_001329096.1:c.69+40123C>G NP_001316025.1:n.69+40123C>G
NM_001329097.1:c.129+63338C>G NP_001316026.1:n.129+63338C>G
XM_017004906.1:c.162+4314C>G XP_016860395.1:n.162+4314C>G
XM_017004907.1:c.162+4314C>G XP_016860396.1:n.162+4314C>G
XR_001738941.1:n.236+4314C>G
XR_001738942.1:n.236+4314C>G
XR_001738943.1:n.245+4314C>G
NM_024572.4:c.129+63338C>G MANE Select NP_078848.2:n.129+63338C>G
NM_001253826.2:c.314+40123C>G NP_001240755.1:n.314+40123C>G
NM_001329095.2:c.24+4314C>G NP_001316024.1:n.24+4314C>G
NM_001329096.2:c.69+40123C>G NP_001316025.1:n.69+40123C>G
NM_001329097.2:c.129+63338C>G NP_001316026.1:n.129+63338C>G
NM_001253827.2:c.69+40123C>G NP_001240756.1:n.69+40123C>G