Canonical Allele Identifier: CA275246

Gene: GALNS

Linked Data

• ClinVar Variation Id: 197149
• ClinVar RCV Id: RCV000178107 ; RCV000282371
• dbSNP Id: rs794727625
• MyVariant Identifiers: chr16:g.88907401A>T (hg19) ; chr16:g.88840993A>T (hg38)
• PubMed: PMID:9298823 ; PMID:12442278 ; PMID:22940367 ; PMID:24411403 ; PMID:25137622 ; PMID:25287660 ; PMID:25501214 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88840993A>T , CM000678.2:g.88840993A>T	GRCh38
NC_000016.9:g.88907401A>T , CM000678.1:g.88907401A>T	GRCh37
NC_000016.8:g.87434902A>T	NCBI36
NG_008667.1:g.20974T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.421T>A MANE Select	ENSP00000268695.5:p.Trp141Arg
ENST00000268695.9:c.421T>A	ENSP00000268695.5:p.Trp141Arg
ENST00000562593.5:n.3830T>A
ENST00000562831.1:c.205T>A	ENSP00000455174.1:p.Trp69Arg
ENST00000565364.1:n.556T>A
ENST00000567525.5:c.246T>A	ENSP00000454484.1:n.246T>A
ENST00000567779.1:n.251T>A
ENST00000568613.5:c.540T>A	ENSP00000457921.1:n.540T>A
NM_000512.4:c.421T>A	NP_000503.1:p.Trp141Arg
XM_005256301.2:c.421T>A	XP_005256358.1:p.Trp141Arg
XM_005256302.1:c.439T>A	XP_005256359.1:p.Trp147Arg
XM_011522982.1:c.439T>A	XP_011521284.1:p.Trp147Arg
XM_011522984.1:c.439T>A	XP_011521286.1:p.Trp147Arg
NM_001323543.1:c.-135T>A	NP_001310472.1:n.-135T>A
NM_001323544.1:c.439T>A	NP_001310473.1:p.Trp147Arg
XM_005256301.3:c.421T>A	XP_005256358.1:p.Trp141Arg
XM_011522982.2:c.439T>A	XP_011521284.1:p.Trp147Arg
XM_017023111.2:c.439T>A	XP_016878600.1:p.Trp147Arg
XM_017023112.2:c.439T>A	XP_016878601.1:p.Trp147Arg
XM_017023113.1:c.-135T>A	XP_016878602.1:n.-135T>A
NM_000512.5:c.421T>A MANE Select	NP_000503.1:p.Trp141Arg
NM_001323543.2:c.-135T>A	NP_001310472.1:n.-135T>A
NM_001323544.2:c.439T>A	NP_001310473.1:p.Trp147Arg