Canonical Allele Identifier: CA397094159

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88884436G>C (hg19) ; chr16:g.88818028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818028G>C , CM000678.2:g.88818028G>C	GRCh38
NC_000016.9:g.88884436G>C , CM000678.1:g.88884436G>C	GRCh37
NC_000016.8:g.87411937G>C	NCBI36
NG_008667.1:g.43939C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1461C>G MANE Select	ENSP00000268695.5:p.Asn487Lys
ENST00000268695.9:c.1461C>G	ENSP00000268695.5:p.Asn487Lys
ENST00000562593.5:n.4870C>G
ENST00000567525.5:c.1142C>G	ENSP00000454484.1:n.1142C>G
ENST00000568613.5:c.1580C>G	ENSP00000457921.1:n.1580C>G
NM_000512.4:c.1461C>G	NP_000503.1:p.Asn487Lys
XM_005256301.2:c.1461C>G	XP_005256358.1:p.Asn487Lys
XM_005256302.1:c.1479C>G	XP_005256359.1:p.Asn493Lys
XM_011522982.1:c.1479C>G	XP_011521284.1:p.Asn493Lys
XM_011522984.1:c.1479C>G	XP_011521286.1:p.Asn493Lys
NM_001323543.1:c.906C>G	NP_001310472.1:p.Asn302Lys
NM_001323544.1:c.1479C>G	NP_001310473.1:p.Asn493Lys
XM_005256301.3:c.1461C>G	XP_005256358.1:p.Asn487Lys
XM_011522982.2:c.1479C>G	XP_011521284.1:p.Asn493Lys
XM_017023111.2:c.1479C>G	XP_016878600.1:p.Asn493Lys
XM_017023112.2:c.1479C>G	XP_016878601.1:p.Asn493Lys
XM_017023113.1:c.906C>G	XP_016878602.1:p.Asn302Lys
NM_000512.5:c.1461C>G MANE Select	NP_000503.1:p.Asn487Lys
NM_001323543.2:c.906C>G	NP_001310472.1:p.Asn302Lys
NM_001323544.2:c.1479C>G	NP_001310473.1:p.Asn493Lys