Canonical Allele Identifier: CA397075892

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88901629G>T (hg19) ; chr16:g.88835221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835221G>T , CM000678.2:g.88835221G>T	GRCh38
NC_000016.9:g.88901629G>T , CM000678.1:g.88901629G>T	GRCh37
NC_000016.8:g.87429130G>T	NCBI36
NG_008667.1:g.26746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.890C>A MANE Select	ENSP00000268695.5:p.Pro297His
ENST00000268695.9:c.890C>A	ENSP00000268695.5:p.Pro297His
ENST00000562593.5:n.4299C>A
ENST00000562931.5:n.478C>A
ENST00000567525.5:c.571C>A	ENSP00000454484.1:n.571C>A
ENST00000568613.5:c.1009C>A	ENSP00000457921.1:n.1009C>A
NM_000512.4:c.890C>A	NP_000503.1:p.Pro297His
XM_005256301.2:c.890C>A	XP_005256358.1:p.Pro297His
XM_005256302.1:c.908C>A	XP_005256359.1:p.Pro303His
XM_011522982.1:c.908C>A	XP_011521284.1:p.Pro303His
XM_011522984.1:c.908C>A	XP_011521286.1:p.Pro303His
NM_001323543.1:c.335C>A	NP_001310472.1:p.Pro112His
NM_001323544.1:c.908C>A	NP_001310473.1:p.Pro303His
XM_005256301.3:c.890C>A	XP_005256358.1:p.Pro297His
XM_011522982.2:c.908C>A	XP_011521284.1:p.Pro303His
XM_017023111.2:c.908C>A	XP_016878600.1:p.Pro303His
XM_017023112.2:c.908C>A	XP_016878601.1:p.Pro303His
XM_017023113.1:c.335C>A	XP_016878602.1:p.Pro112His
NM_000512.5:c.890C>A MANE Select	NP_000503.1:p.Pro297His
NM_001323543.2:c.335C>A	NP_001310472.1:p.Pro112His
NM_001323544.2:c.908C>A	NP_001310473.1:p.Pro303His