Canonical Allele Identifier: CA212880
Gene: GALNT3 HGNC NCBI
gnomAD v2:
2:166621568 T / A
gnomAD v3:
2:165765058 T / A
gnomAD v4:
chr2-165765058-T-A
Joint Max Group AF 0.00015468 (AFR)
Genomes Max Group AF 0.00014872 (AFR)
Exomes Max Group AF 0.00009756 (AFR)
ClinVar Allele:
22833
ClinVar RCV:
RCV000008237
RCV000520800
ClinVar Variation:
7794
dbSNP:
761396172
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165765058T>A , CM000664.2:g.165765058T>A GRCh38
NC_000002.11:g.166621568T>A , CM000664.1:g.166621568T>A GRCh37
NC_000002.10:g.166329814T>A NCBI36
NG_012069.1:g.34236A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392701.8:c.516-2A>T MANE Select ENSP00000376465.3:n.516-2A>T
ENST00000392701.7:c.516-2A>T ENSP00000376465.3:n.516-2A>T
ENST00000412248.5:c.516-2A>T ENSP00000412643.1:n.516-2A>T
NM_004482.3:c.516-2A>T NP_004473.2:n.516-2A>T
XM_005246449.1:c.516-2A>T XP_005246506.1:n.516-2A>T
XM_006712402.2:c.516-2A>T XP_006712465.1:n.516-2A>T
XM_011510929.1:c.516-2A>T XP_011509231.1:n.516-2A>T
XM_017003770.1:c.516-2A>T XP_016859259.1:n.516-2A>T
XR_002959253.1:n.857-2A>T
NM_004482.4:c.516-2A>T MANE Select NP_004473.2:n.516-2A>T
Search 100 bp 5'
Search 100 bp 3'