Canonical Allele Identifier: CA2661746018
Gene: GALNT3 HGNC NCBI

Linked Data

gnomAD v4: 2-165747781-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165747781G>T , CM000664.2:g.165747781G>T GRCh38
NC_000002.11:g.166604291G>T , CM000664.1:g.166604291G>T GRCh37
NC_000002.10:g.166312537G>T NCBI36
NG_012069.1:g.51513C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392701.8:c.*1000C>A MANE Select ENSP00000376465.3:n.*1000C>A
ENST00000392701.7:c.*1000C>A ENSP00000376465.3:n.*1000C>A
NM_004482.4:c.*1000C>A MANE Select NP_004473.2:n.*1000C>A
Search 100 bp 5'
Search 100 bp 3'