Canonical Allele Identifier: CA119083
Gene: GALNT3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.165758862G>T
GRCh37 chr2:g.166615372G>T
Revel Score:
ENST00000392701 (MANE Select) 0.764
ENST00000409882 0.764
ENST00000412248 0.764
gnomAD v2:
2:166615372 G / T
gnomAD v4:
chr2-165758862-G-T
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV000008239
ClinVar Variation:
7796
dbSNP:
137853091
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165758862G>T , CM000664.2:g.165758862G>T GRCh38
NC_000002.11:g.166615372G>T , CM000664.1:g.166615372G>T GRCh37
NC_000002.10:g.166323618G>T NCBI36
NG_012069.1:g.40432C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392701.8:c.1076C>A MANE Select ENSP00000376465.3:p.Thr359Lys
ENST00000392701.7:c.1076C>A ENSP00000376465.3:p.Thr359Lys
ENST00000409882.5:c.290C>A ENSP00000386955.1:p.Thr97Lys
ENST00000412248.5:c.1076C>A ENSP00000412643.1:p.Thr359Lys
ENST00000437849.1:c.504C>A ENSP00000391104.1:n.504C>A
ENST00000463254.1:n.359C>A
NM_004482.3:c.1076C>A NP_004473.2:p.Thr359Lys
XM_005246449.1:c.1076C>A XP_005246506.1:p.Thr359Lys
XM_006712402.2:c.1076C>A XP_006712465.1:p.Thr359Lys
XM_011510929.1:c.1076C>A XP_011509231.1:p.Thr359Lys
XM_017003770.1:c.1076C>A XP_016859259.1:p.Thr359Lys
XR_002959253.1:n.1417C>A
NM_004482.4:c.1076C>A MANE Select NP_004473.2:p.Thr359Lys
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