Canonical Allele Identifier: CA45113122

Gene: GALNT14

Linked Data

• dbSNP Id: rs1009424203
• gnomAD v3: 2-31074759-C-T
• gnomAD v4: 2-31074759-C-T
• MyVariant Identifiers: chr2:g.31297625C>T (hg19) ; chr2:g.31074759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31074759C>T , CM000664.2:g.31074759C>T	GRCh38
NC_000002.11:g.31297625C>T , CM000664.1:g.31297625C>T	GRCh37
NC_000002.10:g.31151129C>T	NCBI36
NG_051040.1:g.68968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349752.10:c.129+63199G>A MANE Select	ENSP00000288988.6:n.129+63199G>A
ENST00000324589.9:c.314+39984G>A	ENSP00000314500.5:n.314+39984G>A
ENST00000349752.9:c.129+63199G>A	ENSP00000288988.6:n.129+63199G>A
ENST00000406653.5:c.69+39984G>A	ENSP00000385435.1:n.69+39984G>A
ENST00000424136.5:c.181+57871G>A
ENST00000430167.1:c.129+63199G>A	ENSP00000406399.1:n.129+63199G>A
ENST00000455477.5:c.198+50395G>A
ENST00000461193.5:n.164+50395G>A
ENST00000464038.5:n.388+72163G>A
ENST00000485468.1:n.290+4175G>A
ENST00000490212.5:n.364+54518G>A
ENST00000496397.5:n.202-1584G>A
ENST00000498206.5:n.358+39984G>A
NM_001253826.1:c.314+39984G>A	NP_001240755.1:n.314+39984G>A
NM_001253827.1:c.69+39984G>A	NP_001240756.1:n.69+39984G>A
NM_024572.3:c.129+63199G>A	NP_078848.2:n.129+63199G>A
NR_045602.1:n.902+4175G>A
XM_011533104.1:c.447+4175G>A	XP_011531406.1:n.447+4175G>A
XM_011533105.1:c.69+39984G>A	XP_011531407.1:n.69+39984G>A
XM_011533106.1:c.42+72163G>A	XP_011531408.1:n.42+72163G>A
NM_001329095.1:c.24+4175G>A	NP_001316024.1:n.24+4175G>A
NM_001329096.1:c.69+39984G>A	NP_001316025.1:n.69+39984G>A
NM_001329097.1:c.129+63199G>A	NP_001316026.1:n.129+63199G>A
XM_017004906.1:c.162+4175G>A	XP_016860395.1:n.162+4175G>A
XM_017004907.1:c.162+4175G>A	XP_016860396.1:n.162+4175G>A
XR_001738941.1:n.236+4175G>A
XR_001738942.1:n.236+4175G>A
XR_001738943.1:n.245+4175G>A
NM_024572.4:c.129+63199G>A MANE Select	NP_078848.2:n.129+63199G>A
NM_001253826.2:c.314+39984G>A	NP_001240755.1:n.314+39984G>A
NM_001329095.2:c.24+4175G>A	NP_001316024.1:n.24+4175G>A
NM_001329096.2:c.69+39984G>A	NP_001316025.1:n.69+39984G>A
NM_001329097.2:c.129+63199G>A	NP_001316026.1:n.129+63199G>A
NM_001253827.2:c.69+39984G>A	NP_001240756.1:n.69+39984G>A