Canonical Allele Identifier: CA119089
Gene: GALNT3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.165761928G>T
GRCh37 chr2:g.166618438G>T
Revel Score:
ENST00000392701 (MANE Select) 0.437
ENST00000412248 0.437
gnomAD v2:
2:166618438 G / T
gnomAD v3:
2:165761928 G / T
gnomAD v4:
chr2-165761928-G-T
Joint Max Group AF 0.00000615 (NFE)
Exomes Max Group AF 0.00000575 (NFE)
ClinVar Allele:
22838
ClinVar RCV:
RCV000008242
ClinVar Variation:
7799
dbSNP:
137853090
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165761928G>T , CM000664.2:g.165761928G>T GRCh38
NC_000002.11:g.166618438G>T , CM000664.1:g.166618438G>T GRCh37
NC_000002.10:g.166326684G>T NCBI36
NG_012069.1:g.37366C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392701.8:c.815C>A MANE Select ENSP00000376465.3:p.Thr272Lys
ENST00000392701.7:c.815C>A ENSP00000376465.3:p.Thr272Lys
ENST00000412248.5:c.815C>A ENSP00000412643.1:p.Thr272Lys
ENST00000437849.1:c.203C>A ENSP00000391104.1:p.Thr68Lys
ENST00000463254.1:n.98C>A
NM_004482.3:c.815C>A NP_004473.2:p.Thr272Lys
XM_005246449.1:c.815C>A XP_005246506.1:p.Thr272Lys
XM_006712402.2:c.815C>A XP_006712465.1:p.Thr272Lys
XM_011510929.1:c.815C>A XP_011509231.1:p.Thr272Lys
XM_017003770.1:c.815C>A XP_016859259.1:p.Thr272Lys
XR_002959253.1:n.1156C>A
NM_004482.4:c.815C>A MANE Select NP_004473.2:p.Thr272Lys
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