Canonical Allele Identifier: CA45115106

Gene: GALNT14

Linked Data

• dbSNP Id: rs773611561
• gnomAD v2: 2-31314464-G-A
• gnomAD v3: 2-31091598-G-A
• gnomAD v4: 2-31091598-G-A
• MyVariant Identifiers: chr2:g.31314464G>A (hg19) ; chr2:g.31091598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31091598G>A , CM000664.2:g.31091598G>A	GRCh38
NC_000002.11:g.31314464G>A , CM000664.1:g.31314464G>A	GRCh37
NC_000002.10:g.31167968G>A	NCBI36
NG_051040.1:g.52129C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349752.10:c.129+46360C>T MANE Select	ENSP00000288988.6:n.129+46360C>T
ENST00000324589.9:c.314+23145C>T	ENSP00000314500.5:n.314+23145C>T
ENST00000349752.9:c.129+46360C>T	ENSP00000288988.6:n.129+46360C>T
ENST00000406653.5:c.69+23145C>T	ENSP00000385435.1:n.69+23145C>T
ENST00000424136.5:c.181+41032C>T
ENST00000430167.1:c.129+46360C>T	ENSP00000406399.1:n.129+46360C>T
ENST00000455477.5:c.198+33556C>T
ENST00000461193.5:n.164+33556C>T
ENST00000464038.5:n.388+55324C>T
ENST00000485468.1:n.158-12532C>T
ENST00000490212.5:n.364+37679C>T
ENST00000496397.5:n.202-18423C>T
ENST00000498206.5:n.358+23145C>T
NM_001253826.1:c.314+23145C>T	NP_001240755.1:n.314+23145C>T
NM_001253827.1:c.69+23145C>T	NP_001240756.1:n.69+23145C>T
NM_024572.3:c.129+46360C>T	NP_078848.2:n.129+46360C>T
NR_045602.1:n.770-12532C>T
XM_011533104.1:c.315-12532C>T	XP_011531406.1:n.315-12532C>T
XM_011533105.1:c.69+23145C>T	XP_011531407.1:n.69+23145C>T
XM_011533106.1:c.42+55324C>T	XP_011531408.1:n.42+55324C>T
NM_001329095.1:c.-109-12532C>T	NP_001316024.1:n.-109-12532C>T
NM_001329096.1:c.69+23145C>T	NP_001316025.1:n.69+23145C>T
NM_001329097.1:c.129+46360C>T	NP_001316026.1:n.129+46360C>T
NM_024572.4:c.129+46360C>T MANE Select	NP_078848.2:n.129+46360C>T
NM_001253826.2:c.314+23145C>T	NP_001240755.1:n.314+23145C>T
NM_001329095.2:c.-109-12532C>T	NP_001316024.1:n.-109-12532C>T
NM_001329096.2:c.69+23145C>T	NP_001316025.1:n.69+23145C>T
NM_001329097.2:c.129+46360C>T	NP_001316026.1:n.129+46360C>T
NM_001253827.2:c.69+23145C>T	NP_001240756.1:n.69+23145C>T