Canonical Allele Identifier: CA8235170

Gene: GALNS

Linked Data

• ClinVar Variation Id: 265167
• ClinVar RCV Id: RCV000254865 ; RCV000691262 ; RCV003230469
• dbSNP Id: rs146093755
• ExAC: 16:88907407 C / T
• gnomAD v2: 16-88907407-C-T
• gnomAD v3: 16-88840999-C-T
• gnomAD v4: 16-88840999-C-T
• MyVariant Identifiers: chr16:g.88907407C>T (hg19) ; chr16:g.88840999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88840999C>T , CM000678.2:g.88840999C>T	GRCh38
NC_000016.9:g.88907407C>T , CM000678.1:g.88907407C>T	GRCh37
NC_000016.8:g.87434908C>T	NCBI36
NG_008667.1:g.20968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.415G>A MANE Select	ENSP00000268695.5:p.Gly139Ser
ENST00000268695.9:c.415G>A	ENSP00000268695.5:p.Gly139Ser
ENST00000562593.5:n.3824G>A
ENST00000562831.1:c.199G>A	ENSP00000455174.1:p.Gly67Ser
ENST00000565364.1:n.550G>A
ENST00000567525.5:c.240G>A	ENSP00000454484.1:n.240G>A
ENST00000567779.1:n.245G>A
ENST00000568613.5:c.534G>A	ENSP00000457921.1:n.534G>A
NM_000512.4:c.415G>A	NP_000503.1:p.Gly139Ser
XM_005256301.2:c.415G>A	XP_005256358.1:p.Gly139Ser
XM_005256302.1:c.433G>A	XP_005256359.1:p.Gly145Ser
XM_011522982.1:c.433G>A	XP_011521284.1:p.Gly145Ser
XM_011522984.1:c.433G>A	XP_011521286.1:p.Gly145Ser
NM_001323543.1:c.-141G>A	NP_001310472.1:n.-141G>A
NM_001323544.1:c.433G>A	NP_001310473.1:p.Gly145Ser
XM_005256301.3:c.415G>A	XP_005256358.1:p.Gly139Ser
XM_011522982.2:c.433G>A	XP_011521284.1:p.Gly145Ser
XM_017023111.2:c.433G>A	XP_016878600.1:p.Gly145Ser
XM_017023112.2:c.433G>A	XP_016878601.1:p.Gly145Ser
XM_017023113.1:c.-141G>A	XP_016878602.1:n.-141G>A
NM_000512.5:c.415G>A MANE Select	NP_000503.1:p.Gly139Ser
NM_001323543.2:c.-141G>A	NP_001310472.1:n.-141G>A
NM_001323544.2:c.433G>A	NP_001310473.1:p.Gly145Ser