Canonical Allele Identifier: CA397089304

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048449
• ClinVar RCV Id: RCV001578550
• dbSNP Id: rs1028668536
• MyVariant Identifiers: chr16:g.88908356G>C (hg19) ; chr16:g.88841948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841948G>C , CM000678.2:g.88841948G>C	GRCh38
NC_000016.9:g.88908356G>C , CM000678.1:g.88908356G>C	GRCh37
NC_000016.8:g.87435857G>C	NCBI36
NG_008667.1:g.20019C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.268C>G MANE Select	ENSP00000268695.5:p.Arg90Gly
ENST00000268695.9:c.268C>G	ENSP00000268695.5:p.Arg90Gly
ENST00000562593.5:n.3677C>G
ENST00000562831.1:c.52C>G	ENSP00000455174.1:p.Arg18Gly
ENST00000565364.1:n.403C>G
ENST00000567525.5:c.93C>G	ENSP00000454484.1:p.Asp31Glu
ENST00000567779.1:n.98C>G
ENST00000568613.5:c.387C>G	ENSP00000457921.1:n.387C>G
NM_000512.4:c.268C>G	NP_000503.1:p.Arg90Gly
XM_005256301.2:c.268C>G	XP_005256358.1:p.Arg90Gly
XM_005256302.1:c.286C>G	XP_005256359.1:p.Arg96Gly
XM_011522982.1:c.286C>G	XP_011521284.1:p.Arg96Gly
XM_011522984.1:c.286C>G	XP_011521286.1:p.Arg96Gly
NM_001323543.1:c.-288C>G	NP_001310472.1:n.-288C>G
NM_001323544.1:c.286C>G	NP_001310473.1:p.Arg96Gly
XM_005256301.3:c.268C>G	XP_005256358.1:p.Arg90Gly
XM_011522982.2:c.286C>G	XP_011521284.1:p.Arg96Gly
XM_017023111.2:c.286C>G	XP_016878600.1:p.Arg96Gly
XM_017023112.2:c.286C>G	XP_016878601.1:p.Arg96Gly
XM_017023113.1:c.-288C>G	XP_016878602.1:n.-288C>G
NM_000512.5:c.268C>G MANE Select	NP_000503.1:p.Arg90Gly
NM_001323543.2:c.-288C>G	NP_001310472.1:n.-288C>G
NM_001323544.2:c.286C>G	NP_001310473.1:p.Arg96Gly