Canonical Allele Identifier: CA45113091

Gene: GALNT14

Linked Data

• dbSNP Id: rs751769515
• gnomAD v2: 2-31297378-C-T
• gnomAD v3: 2-31074512-C-T
• gnomAD v4: 2-31074512-C-T
• MyVariant Identifiers: chr2:g.31297378C>T (hg19) ; chr2:g.31074512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31074512C>T , CM000664.2:g.31074512C>T	GRCh38
NC_000002.11:g.31297378C>T , CM000664.1:g.31297378C>T	GRCh37
NC_000002.10:g.31150882C>T	NCBI36
NG_051040.1:g.69215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349752.10:c.129+63446G>A MANE Select	ENSP00000288988.6:n.129+63446G>A
ENST00000324589.9:c.314+40231G>A	ENSP00000314500.5:n.314+40231G>A
ENST00000349752.9:c.129+63446G>A	ENSP00000288988.6:n.129+63446G>A
ENST00000406653.5:c.69+40231G>A	ENSP00000385435.1:n.69+40231G>A
ENST00000424136.5:c.181+58118G>A
ENST00000430167.1:c.129+63446G>A	ENSP00000406399.1:n.129+63446G>A
ENST00000455477.5:c.198+50642G>A
ENST00000461193.5:n.164+50642G>A
ENST00000464038.5:n.388+72410G>A
ENST00000485468.1:n.290+4422G>A
ENST00000490212.5:n.364+54765G>A
ENST00000496397.5:n.202-1337G>A
ENST00000498206.5:n.358+40231G>A
NM_001253826.1:c.314+40231G>A	NP_001240755.1:n.314+40231G>A
NM_001253827.1:c.69+40231G>A	NP_001240756.1:n.69+40231G>A
NM_024572.3:c.129+63446G>A	NP_078848.2:n.129+63446G>A
NR_045602.1:n.902+4422G>A
XM_011533104.1:c.447+4422G>A	XP_011531406.1:n.447+4422G>A
XM_011533105.1:c.69+40231G>A	XP_011531407.1:n.69+40231G>A
XM_011533106.1:c.42+72410G>A	XP_011531408.1:n.42+72410G>A
NM_001329095.1:c.24+4422G>A	NP_001316024.1:n.24+4422G>A
NM_001329096.1:c.69+40231G>A	NP_001316025.1:n.69+40231G>A
NM_001329097.1:c.129+63446G>A	NP_001316026.1:n.129+63446G>A
XM_017004906.1:c.162+4422G>A	XP_016860395.1:n.162+4422G>A
XM_017004907.1:c.162+4422G>A	XP_016860396.1:n.162+4422G>A
XR_001738941.1:n.236+4422G>A
XR_001738942.1:n.236+4422G>A
XR_001738943.1:n.245+4422G>A
NM_024572.4:c.129+63446G>A MANE Select	NP_078848.2:n.129+63446G>A
NM_001253826.2:c.314+40231G>A	NP_001240755.1:n.314+40231G>A
NM_001329095.2:c.24+4422G>A	NP_001316024.1:n.24+4422G>A
NM_001329096.2:c.69+40231G>A	NP_001316025.1:n.69+40231G>A
NM_001329097.2:c.129+63446G>A	NP_001316026.1:n.129+63446G>A
NM_001253827.2:c.69+40231G>A	NP_001240756.1:n.69+40231G>A