Canonical Allele Identifier: CA247068

Gene: GALNS

Linked Data

• ClinVar Variation Id: 198427
• ClinVar RCV Id: RCV000179765 ; RCV000310050
• dbSNP Id: rs140162658
• ExAC: 16:88902226 C / T
• gnomAD v2: 16-88902226-C-T
• gnomAD v3: 16-88835818-C-T
• gnomAD v4: 16-88835818-C-T
• MyVariant Identifiers: chr16:g.88902226C>T (hg19) ; chr16:g.88835818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835818C>T , CM000678.2:g.88835818C>T	GRCh38
NC_000016.9:g.88902226C>T , CM000678.1:g.88902226C>T	GRCh37
NC_000016.8:g.87429727C>T	NCBI36
NG_008667.1:g.26149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.665G>A MANE Select	ENSP00000268695.5:p.Arg222Gln
ENST00000268695.9:c.665G>A	ENSP00000268695.5:p.Arg222Gln
ENST00000562593.5:n.4074G>A
ENST00000562831.1:c.449G>A	ENSP00000455174.1:p.Arg150Gln
ENST00000562931.5:n.253G>A
ENST00000566563.1:n.367G>A
ENST00000567525.5:c.346G>A	ENSP00000454484.1:n.346G>A
ENST00000568613.5:c.784G>A	ENSP00000457921.1:n.784G>A
NM_000512.4:c.665G>A	NP_000503.1:p.Arg222Gln
XM_005256301.2:c.665G>A	XP_005256358.1:p.Arg222Gln
XM_005256302.1:c.683G>A	XP_005256359.1:p.Arg228Gln
XM_011522982.1:c.683G>A	XP_011521284.1:p.Arg228Gln
XM_011522984.1:c.683G>A	XP_011521286.1:p.Arg228Gln
NM_001323543.1:c.110G>A	NP_001310472.1:p.Arg37Gln
NM_001323544.1:c.683G>A	NP_001310473.1:p.Arg228Gln
XM_005256301.3:c.665G>A	XP_005256358.1:p.Arg222Gln
XM_011522982.2:c.683G>A	XP_011521284.1:p.Arg228Gln
XM_017023111.2:c.683G>A	XP_016878600.1:p.Arg228Gln
XM_017023112.2:c.683G>A	XP_016878601.1:p.Arg228Gln
XM_017023113.1:c.110G>A	XP_016878602.1:p.Arg37Gln
NM_000512.5:c.665G>A MANE Select	NP_000503.1:p.Arg222Gln
NM_001323543.2:c.110G>A	NP_001310472.1:p.Arg37Gln
NM_001323544.2:c.683G>A	NP_001310473.1:p.Arg228Gln