Canonical Allele Identifier: CA286406344

Gene: GALNS

Linked Data

• dbSNP Id: rs1055005992
• gnomAD v2: 16-88908267-C-T
• gnomAD v3: 16-88841859-C-T
• gnomAD v4: 16-88841859-C-T
• MyVariant Identifiers: chr16:g.88908267C>T (hg19) ; chr16:g.88841859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841859C>T , CM000678.2:g.88841859C>T	GRCh38
NC_000016.9:g.88908267C>T , CM000678.1:g.88908267C>T	GRCh37
NC_000016.8:g.87435768C>T	NCBI36
NG_008667.1:g.20108G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.319+38G>A MANE Select	ENSP00000268695.5:n.319+38G>A
ENST00000268695.9:c.319+38G>A	ENSP00000268695.5:n.319+38G>A
ENST00000562593.5:n.3728+38G>A
ENST00000562831.1:c.103+38G>A	ENSP00000455174.1:n.103+38G>A
ENST00000565364.1:n.454+38G>A
ENST00000567525.5:c.144+38G>A	ENSP00000454484.1:n.144+38G>A
ENST00000567779.1:n.149+38G>A
ENST00000568613.5:c.438+38G>A	ENSP00000457921.1:n.438+38G>A
NM_000512.4:c.319+38G>A	NP_000503.1:n.319+38G>A
XM_005256301.2:c.319+38G>A	XP_005256358.1:n.319+38G>A
XM_005256302.1:c.337+38G>A	XP_005256359.1:n.337+38G>A
XM_011522982.1:c.337+38G>A	XP_011521284.1:n.337+38G>A
XM_011522984.1:c.337+38G>A	XP_011521286.1:n.337+38G>A
NM_001323543.1:c.-237+38G>A	NP_001310472.1:n.-237+38G>A
NM_001323544.1:c.337+38G>A	NP_001310473.1:n.337+38G>A
XM_005256301.3:c.319+38G>A	XP_005256358.1:n.319+38G>A
XM_011522982.2:c.337+38G>A	XP_011521284.1:n.337+38G>A
XM_017023111.2:c.337+38G>A	XP_016878600.1:n.337+38G>A
XM_017023112.2:c.337+38G>A	XP_016878601.1:n.337+38G>A
XM_017023113.1:c.-237+38G>A	XP_016878602.1:n.-237+38G>A
NM_000512.5:c.319+38G>A MANE Select	NP_000503.1:n.319+38G>A
NM_001323543.2:c.-237+38G>A	NP_001310472.1:n.-237+38G>A
NM_001323544.2:c.337+38G>A	NP_001310473.1:n.337+38G>A