Canonical Allele Identifier: CA397094451

Gene: GALNS

Linked Data

• gnomAD v4: 16-88818080-G-C
• MyVariant Identifiers: chr16:g.88884488G>C (hg19) ; chr16:g.88818080G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818080G>C , CM000678.2:g.88818080G>C	GRCh38
NC_000016.9:g.88884488G>C , CM000678.1:g.88884488G>C	GRCh37
NC_000016.8:g.87411989G>C	NCBI36
NG_008667.1:g.43887C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1409C>G MANE Select	ENSP00000268695.5:p.Ser470Trp
ENST00000268695.9:c.1409C>G	ENSP00000268695.5:p.Ser470Trp
ENST00000562593.5:n.4818C>G
ENST00000567525.5:c.1090C>G	ENSP00000454484.1:n.1090C>G
ENST00000568613.5:c.1528C>G	ENSP00000457921.1:n.1528C>G
NM_000512.4:c.1409C>G	NP_000503.1:p.Ser470Trp
XM_005256301.2:c.1409C>G	XP_005256358.1:p.Ser470Trp
XM_005256302.1:c.1427C>G	XP_005256359.1:p.Ser476Trp
XM_011522982.1:c.1427C>G	XP_011521284.1:p.Ser476Trp
XM_011522984.1:c.1427C>G	XP_011521286.1:p.Ser476Trp
NM_001323543.1:c.854C>G	NP_001310472.1:p.Ser285Trp
NM_001323544.1:c.1427C>G	NP_001310473.1:p.Ser476Trp
XM_005256301.3:c.1409C>G	XP_005256358.1:p.Ser470Trp
XM_011522982.2:c.1427C>G	XP_011521284.1:p.Ser476Trp
XM_017023111.2:c.1427C>G	XP_016878600.1:p.Ser476Trp
XM_017023112.2:c.1427C>G	XP_016878601.1:p.Ser476Trp
XM_017023113.1:c.854C>G	XP_016878602.1:p.Ser285Trp
NM_000512.5:c.1409C>G MANE Select	NP_000503.1:p.Ser470Trp
NM_001323543.2:c.854C>G	NP_001310472.1:p.Ser285Trp
NM_001323544.2:c.1427C>G	NP_001310473.1:p.Ser476Trp