Canonical Allele Identifier: CA212877
Gene: GALNT3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.165754931C>T
GRCh37 chr2:g.166611441C>T
gnomAD v2:
2:166611441 C / T
gnomAD v4:
chr2-165754931-C-T
Joint Max Group AF 0.00000501 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV000008234
ClinVar Variation:
7791
dbSNP:
745655924
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165754931C>T , CM000664.2:g.165754931C>T GRCh38
NC_000002.11:g.166611441C>T , CM000664.1:g.166611441C>T GRCh37
NC_000002.10:g.166319687C>T NCBI36
NG_012069.1:g.44363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392701.8:c.1524+1G>A MANE Select ENSP00000376465.3:n.1524+1G>A
ENST00000392701.7:c.1524+1G>A ENSP00000376465.3:n.1524+1G>A
ENST00000409882.5:c.738+1G>A ENSP00000386955.1:n.738+1G>A
NM_004482.3:c.1524+1G>A NP_004473.2:n.1524+1G>A
XM_005246449.1:c.1524+1G>A XP_005246506.1:n.1524+1G>A
XM_011510929.1:c.1524+1G>A XP_011509231.1:n.1524+1G>A
XM_017003770.1:c.1524+1G>A XP_016859259.1:n.1524+1G>A
XR_002959253.1:n.1800+1G>A
NM_004482.4:c.1524+1G>A MANE Select NP_004473.2:n.1524+1G>A
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