Canonical Allele Identifier: CA8235191

Gene: GALNS

Linked Data

• ClinVar Variation Id: 569803
• ClinVar RCV Id: RCV000690516 ; RCV001193733
• dbSNP Id: rs200374326
• ExAC: 16:88907491 G / A
• gnomAD v2: 16-88907491-G-A
• gnomAD v3: 16-88841083-G-A
• gnomAD v4: 16-88841083-G-A
• MyVariant Identifiers: chr16:g.88907491G>A (hg19) ; chr16:g.88841083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841083G>A , CM000678.2:g.88841083G>A	GRCh38
NC_000016.9:g.88907491G>A , CM000678.1:g.88907491G>A	GRCh37
NC_000016.8:g.87434992G>A	NCBI36
NG_008667.1:g.20884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.331C>T MANE Select	ENSP00000268695.5:p.Gln111Ter
ENST00000268695.9:c.331C>T	ENSP00000268695.5:p.Gln111Ter
ENST00000562593.5:n.3740C>T
ENST00000562831.1:c.115C>T	ENSP00000455174.1:p.Gln39Ter
ENST00000565364.1:n.466C>T
ENST00000567525.5:c.156C>T	ENSP00000454484.1:p.Arg52=
ENST00000567779.1:n.161C>T
ENST00000568613.5:c.450C>T	ENSP00000457921.1:n.450C>T
NM_000512.4:c.331C>T	NP_000503.1:p.Gln111Ter
XM_005256301.2:c.331C>T	XP_005256358.1:p.Gln111Ter
XM_005256302.1:c.349C>T	XP_005256359.1:p.Gln117Ter
XM_011522982.1:c.349C>T	XP_011521284.1:p.Gln117Ter
XM_011522984.1:c.349C>T	XP_011521286.1:p.Gln117Ter
NM_001323543.1:c.-225C>T	NP_001310472.1:n.-225C>T
NM_001323544.1:c.349C>T	NP_001310473.1:p.Gln117Ter
XM_005256301.3:c.331C>T	XP_005256358.1:p.Gln111Ter
XM_011522982.2:c.349C>T	XP_011521284.1:p.Gln117Ter
XM_017023111.2:c.349C>T	XP_016878600.1:p.Gln117Ter
XM_017023112.2:c.349C>T	XP_016878601.1:p.Gln117Ter
XM_017023113.1:c.-225C>T	XP_016878602.1:n.-225C>T
NM_000512.5:c.331C>T MANE Select	NP_000503.1:p.Gln111Ter
NM_001323543.2:c.-225C>T	NP_001310472.1:n.-225C>T
NM_001323544.2:c.349C>T	NP_001310473.1:p.Gln117Ter