Canonical Allele Identifier: CA767712829
Gene: GALNT14 HGNC NCBI

Linked Data

dbSNP Id: rs1488596566
gnomAD v3: 2-31074688-A-G
gnomAD v4: 2-31074688-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31074688A>G , CM000664.2:g.31074688A>G GRCh38
NC_000002.11:g.31297554A>G , CM000664.1:g.31297554A>G GRCh37
NC_000002.10:g.31151058A>G NCBI36
NG_051040.1:g.69039T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349752.10:c.129+63270T>C MANE Select ENSP00000288988.6:n.129+63270T>C
ENST00000324589.9:c.314+40055T>C ENSP00000314500.5:n.314+40055T>C
ENST00000349752.9:c.129+63270T>C ENSP00000288988.6:n.129+63270T>C
ENST00000406653.5:c.69+40055T>C ENSP00000385435.1:n.69+40055T>C
ENST00000424136.5:c.181+57942T>C
ENST00000430167.1:c.129+63270T>C ENSP00000406399.1:n.129+63270T>C
ENST00000455477.5:c.198+50466T>C
ENST00000461193.5:n.164+50466T>C
ENST00000464038.5:n.388+72234T>C
ENST00000485468.1:n.290+4246T>C
ENST00000490212.5:n.364+54589T>C
ENST00000496397.5:n.202-1513T>C
ENST00000498206.5:n.358+40055T>C
NM_001253826.1:c.314+40055T>C NP_001240755.1:n.314+40055T>C
NM_001253827.1:c.69+40055T>C NP_001240756.1:n.69+40055T>C
NM_024572.3:c.129+63270T>C NP_078848.2:n.129+63270T>C
NR_045602.1:n.902+4246T>C
XM_011533104.1:c.447+4246T>C XP_011531406.1:n.447+4246T>C
XM_011533105.1:c.69+40055T>C XP_011531407.1:n.69+40055T>C
XM_011533106.1:c.42+72234T>C XP_011531408.1:n.42+72234T>C
NM_001329095.1:c.24+4246T>C NP_001316024.1:n.24+4246T>C
NM_001329096.1:c.69+40055T>C NP_001316025.1:n.69+40055T>C
NM_001329097.1:c.129+63270T>C NP_001316026.1:n.129+63270T>C
XM_017004906.1:c.162+4246T>C XP_016860395.1:n.162+4246T>C
XM_017004907.1:c.162+4246T>C XP_016860396.1:n.162+4246T>C
XR_001738941.1:n.236+4246T>C
XR_001738942.1:n.236+4246T>C
XR_001738943.1:n.245+4246T>C
NM_024572.4:c.129+63270T>C MANE Select NP_078848.2:n.129+63270T>C
NM_001253826.2:c.314+40055T>C NP_001240755.1:n.314+40055T>C
NM_001329095.2:c.24+4246T>C NP_001316024.1:n.24+4246T>C
NM_001329096.2:c.69+40055T>C NP_001316025.1:n.69+40055T>C
NM_001329097.2:c.129+63270T>C NP_001316026.1:n.129+63270T>C
NM_001253827.2:c.69+40055T>C NP_001240756.1:n.69+40055T>C