Canonical Allele Identifier: CA1028946534

Gene: GALNT14

Linked Data

• dbSNP Id: rs1676744503
• gnomAD v3: 2-31091614-A-G
• gnomAD v4: 2-31091614-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31091614A>G , CM000664.2:g.31091614A>G	GRCh38
NC_000002.11:g.31314480A>G , CM000664.1:g.31314480A>G	GRCh37
NC_000002.10:g.31167984A>G	NCBI36
NG_051040.1:g.52113T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000349752.10:c.129+46344T>C MANE Select	ENSP00000288988.6:n.129+46344T>C
ENST00000324589.9:c.314+23129T>C	ENSP00000314500.5:n.314+23129T>C
ENST00000349752.9:c.129+46344T>C	ENSP00000288988.6:n.129+46344T>C
ENST00000406653.5:c.69+23129T>C	ENSP00000385435.1:n.69+23129T>C
ENST00000424136.5:c.181+41016T>C
ENST00000430167.1:c.129+46344T>C	ENSP00000406399.1:n.129+46344T>C
ENST00000455477.5:c.198+33540T>C
ENST00000461193.5:n.164+33540T>C
ENST00000464038.5:n.388+55308T>C
ENST00000485468.1:n.158-12548T>C
ENST00000490212.5:n.364+37663T>C
ENST00000496397.5:n.202-18439T>C
ENST00000498206.5:n.358+23129T>C
NM_001253826.1:c.314+23129T>C	NP_001240755.1:n.314+23129T>C
NM_001253827.1:c.69+23129T>C	NP_001240756.1:n.69+23129T>C
NM_024572.3:c.129+46344T>C	NP_078848.2:n.129+46344T>C
NR_045602.1:n.770-12548T>C
XM_011533104.1:c.315-12548T>C	XP_011531406.1:n.315-12548T>C
XM_011533105.1:c.69+23129T>C	XP_011531407.1:n.69+23129T>C
XM_011533106.1:c.42+55308T>C	XP_011531408.1:n.42+55308T>C
NM_001329095.1:c.-109-12548T>C	NP_001316024.1:n.-109-12548T>C
NM_001329096.1:c.69+23129T>C	NP_001316025.1:n.69+23129T>C
NM_001329097.1:c.129+46344T>C	NP_001316026.1:n.129+46344T>C
NM_024572.4:c.129+46344T>C MANE Select	NP_078848.2:n.129+46344T>C
NM_001253826.2:c.314+23129T>C	NP_001240755.1:n.314+23129T>C
NM_001329095.2:c.-109-12548T>C	NP_001316024.1:n.-109-12548T>C
NM_001329096.2:c.69+23129T>C	NP_001316025.1:n.69+23129T>C
NM_001329097.2:c.129+46344T>C	NP_001316026.1:n.129+46344T>C
NM_001253827.2:c.69+23129T>C	NP_001240756.1:n.69+23129T>C