Canonical Allele Identifier: CA59748679
Gene: GALNT3 HGNC NCBI

Linked Data

ClinVar Variation Id: 497358
dbSNP Id: rs762936774

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165759517del , CM000664.2:g.165759517del GRCh38
NC_000002.11:g.166616027del , CM000664.1:g.166616027del GRCh37
NC_000002.10:g.166324273del NCBI36
NG_012069.1:g.39777del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392701.8:c.892del MANE Select ENSP00000376465.3:p.Tyr298ThrfsTer5
ENST00000392701.7:c.892del ENSP00000376465.3:p.Tyr298ThrfsTer5
ENST00000409882.5:c.106del ENSP00000386955.1:p.Tyr36ThrfsTer5
ENST00000412248.5:c.892del ENSP00000412643.1:p.Tyr298ThrfsTer5
ENST00000437849.1:c.320del ENSP00000391104.1:n.320del
ENST00000463254.1:n.175del
NM_004482.3:c.892del NP_004473.2:p.Tyr298ThrfsTer5
XM_005246449.1:c.892del XP_005246506.1:p.Tyr298ThrfsTer5
XM_006712402.2:c.892del XP_006712465.1:p.Tyr298ThrfsTer5
XM_011510929.1:c.892del XP_011509231.1:p.Tyr298ThrfsTer5
XM_017003770.1:c.892del XP_016859259.1:p.Tyr298ThrfsTer5
XR_002959253.1:n.1233del
NM_004482.4:c.892del MANE Select NP_004473.2:p.Tyr298ThrfsTer5