Canonical Allele Identifier: CA119081
Gene: GALNT3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.165749747G>A
GRCh37 chr2:g.166606257G>A
gnomAD v2:
2:166606257 G / A
gnomAD v3:
2:165749747 G / A
gnomAD v4:
chr2-165749747-G-A
Joint Max Group AF 0.00000878 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
ClinVar RCV:
RCV000008238
ClinVar Variation:
7795
dbSNP:
137853087
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165749747G>A , CM000664.2:g.165749747G>A GRCh38
NC_000002.11:g.166606257G>A , CM000664.1:g.166606257G>A GRCh37
NC_000002.10:g.166314503G>A NCBI36
NG_012069.1:g.49547C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392701.8:c.1774C>T MANE Select ENSP00000376465.3:p.Gln592Ter
ENST00000392701.7:c.1774C>T ENSP00000376465.3:p.Gln592Ter
ENST00000409882.5:c.988C>T ENSP00000386955.1:p.Gln330Ter
NM_004482.3:c.1774C>T NP_004473.2:p.Gln592Ter
XM_005246449.1:c.1774C>T XP_005246506.1:p.Gln592Ter
XM_011510929.1:c.1774C>T XP_011509231.1:p.Gln592Ter
XM_017003770.1:c.1774C>T XP_016859259.1:p.Gln592Ter
NM_004482.4:c.1774C>T MANE Select NP_004473.2:p.Gln592Ter
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