Canonical Allele Identifier: CA397089423

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88908376C>A (hg19) ; chr16:g.88841968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841968C>A , CM000678.2:g.88841968C>A	GRCh38
NC_000016.9:g.88908376C>A , CM000678.1:g.88908376C>A	GRCh37
NC_000016.8:g.87435877C>A	NCBI36
NG_008667.1:g.19999G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.248G>T MANE Select	ENSP00000268695.5:p.Arg83Met
ENST00000268695.9:c.248G>T	ENSP00000268695.5:p.Arg83Met
ENST00000562593.5:n.3657G>T
ENST00000562831.1:c.32G>T	ENSP00000455174.1:p.Arg11Met
ENST00000565364.1:n.383G>T
ENST00000567525.5:c.73G>T	ENSP00000454484.1:p.Gly25Trp
ENST00000567779.1:n.78G>T
ENST00000568613.5:c.367G>T	ENSP00000457921.1:n.367G>T
NM_000512.4:c.248G>T	NP_000503.1:p.Arg83Met
XM_005256301.2:c.248G>T	XP_005256358.1:p.Arg83Met
XM_005256302.1:c.266G>T	XP_005256359.1:p.Arg89Met
XM_011522982.1:c.266G>T	XP_011521284.1:p.Arg89Met
XM_011522984.1:c.266G>T	XP_011521286.1:p.Arg89Met
NM_001323543.1:c.-308G>T	NP_001310472.1:n.-308G>T
NM_001323544.1:c.266G>T	NP_001310473.1:p.Arg89Met
XM_005256301.3:c.248G>T	XP_005256358.1:p.Arg83Met
XM_011522982.2:c.266G>T	XP_011521284.1:p.Arg89Met
XM_017023111.2:c.266G>T	XP_016878600.1:p.Arg89Met
XM_017023112.2:c.266G>T	XP_016878601.1:p.Arg89Met
XM_017023113.1:c.-308G>T	XP_016878602.1:n.-308G>T
NM_000512.5:c.248G>T MANE Select	NP_000503.1:p.Arg83Met
NM_001323543.2:c.-308G>T	NP_001310472.1:n.-308G>T
NM_001323544.2:c.266G>T	NP_001310473.1:p.Arg89Met