Canonical Allele Identifier: CA119079
Gene: GALNT3 HGNC NCBI
COSMIC:
COSM5697527 (not active)
MyVariant.info:
GRCh38 chr2:g.165770217G>A
GRCh37 chr2:g.166626727G>A
gnomAD v2:
2:166626727 G / A
gnomAD v3:
2:165770217 G / A
gnomAD v4:
chr2-165770217-G-A
Joint Max Group AF 0.0004951 (AFR)
Genomes Max Group AF 0.00047851 (AFR)
Exomes Max Group AF 0.00039505 (AFR)
ClinVar RCV:
RCV000008235
RCV000807812
ClinVar Variation:
7792
dbSNP:
137853086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165770217G>A , CM000664.2:g.165770217G>A GRCh38
NC_000002.11:g.166626727G>A , CM000664.1:g.166626727G>A GRCh37
NC_000002.10:g.166334973G>A NCBI36
NG_012069.1:g.29077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392701.8:c.484C>T MANE Select ENSP00000376465.3:p.Arg162Ter
ENST00000392701.7:c.484C>T ENSP00000376465.3:p.Arg162Ter
ENST00000412248.5:c.484C>T ENSP00000412643.1:p.Arg162Ter
NM_004482.3:c.484C>T NP_004473.2:p.Arg162Ter
XM_005246449.1:c.484C>T XP_005246506.1:p.Arg162Ter
XM_006712402.2:c.484C>T XP_006712465.1:p.Arg162Ter
XM_011510929.1:c.484C>T XP_011509231.1:p.Arg162Ter
XM_017003770.1:c.484C>T XP_016859259.1:p.Arg162Ter
XR_002959253.1:n.825C>T
NM_004482.4:c.484C>T MANE Select NP_004473.2:p.Arg162Ter
Search 100 bp 5'
Search 100 bp 3'