Canonical Allele Identifier: CA45113089

Gene: GALNT14

Linked Data

• dbSNP Id: rs190932511
• gnomAD v2: 2-31297336-A-C
• gnomAD v3: 2-31074470-A-C
• gnomAD v4: 2-31074470-A-C
• MyVariant Identifiers: chr2:g.31297336A>C (hg19) ; chr2:g.31074470A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31074470A>C , CM000664.2:g.31074470A>C	GRCh38
NC_000002.11:g.31297336A>C , CM000664.1:g.31297336A>C	GRCh37
NC_000002.10:g.31150840A>C	NCBI36
NG_051040.1:g.69257T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349752.10:c.129+63488T>G MANE Select	ENSP00000288988.6:n.129+63488T>G
ENST00000324589.9:c.314+40273T>G	ENSP00000314500.5:n.314+40273T>G
ENST00000349752.9:c.129+63488T>G	ENSP00000288988.6:n.129+63488T>G
ENST00000406653.5:c.69+40273T>G	ENSP00000385435.1:n.69+40273T>G
ENST00000424136.5:c.181+58160T>G
ENST00000430167.1:c.129+63488T>G	ENSP00000406399.1:n.129+63488T>G
ENST00000455477.5:c.198+50684T>G
ENST00000461193.5:n.164+50684T>G
ENST00000464038.5:n.388+72452T>G
ENST00000485468.1:n.290+4464T>G
ENST00000490212.5:n.364+54807T>G
ENST00000496397.5:n.202-1295T>G
ENST00000498206.5:n.358+40273T>G
NM_001253826.1:c.314+40273T>G	NP_001240755.1:n.314+40273T>G
NM_001253827.1:c.69+40273T>G	NP_001240756.1:n.69+40273T>G
NM_024572.3:c.129+63488T>G	NP_078848.2:n.129+63488T>G
NR_045602.1:n.902+4464T>G
XM_011533104.1:c.447+4464T>G	XP_011531406.1:n.447+4464T>G
XM_011533105.1:c.69+40273T>G	XP_011531407.1:n.69+40273T>G
XM_011533106.1:c.42+72452T>G	XP_011531408.1:n.42+72452T>G
NM_001329095.1:c.24+4464T>G	NP_001316024.1:n.24+4464T>G
NM_001329096.1:c.69+40273T>G	NP_001316025.1:n.69+40273T>G
NM_001329097.1:c.129+63488T>G	NP_001316026.1:n.129+63488T>G
XM_017004906.1:c.162+4464T>G	XP_016860395.1:n.162+4464T>G
XM_017004907.1:c.162+4464T>G	XP_016860396.1:n.162+4464T>G
XR_001738941.1:n.236+4464T>G
XR_001738942.1:n.236+4464T>G
XR_001738943.1:n.245+4464T>G
NM_024572.4:c.129+63488T>G MANE Select	NP_078848.2:n.129+63488T>G
NM_001253826.2:c.314+40273T>G	NP_001240755.1:n.314+40273T>G
NM_001329095.2:c.24+4464T>G	NP_001316024.1:n.24+4464T>G
NM_001329096.2:c.69+40273T>G	NP_001316025.1:n.69+40273T>G
NM_001329097.2:c.129+63488T>G	NP_001316026.1:n.129+63488T>G
NM_001253827.2:c.69+40273T>G	NP_001240756.1:n.69+40273T>G