Canonical Allele Identifier: CA397083201

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88904120C>A (hg19) ; chr16:g.88837712C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837712C>A , CM000678.2:g.88837712C>A	GRCh38
NC_000016.9:g.88904120C>A , CM000678.1:g.88904120C>A	GRCh37
NC_000016.8:g.87431621C>A	NCBI36
NG_008667.1:g.24255G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.476G>T MANE Select	ENSP00000268695.5:p.Trp159Leu
ENST00000268695.9:c.476G>T	ENSP00000268695.5:p.Trp159Leu
ENST00000561812.1:n.432G>T
ENST00000562593.5:n.3885G>T
ENST00000562831.1:c.260G>T	ENSP00000455174.1:p.Trp87Leu
ENST00000562931.5:n.64G>T
ENST00000566563.1:n.178G>T
ENST00000567525.5:c.248-1445G>T	ENSP00000454484.1:n.248-1445G>T
ENST00000568613.5:c.595G>T	ENSP00000457921.1:n.595G>T
NM_000512.4:c.476G>T	NP_000503.1:p.Trp159Leu
XM_005256301.2:c.476G>T	XP_005256358.1:p.Trp159Leu
XM_005256302.1:c.494G>T	XP_005256359.1:p.Trp165Leu
XM_011522982.1:c.494G>T	XP_011521284.1:p.Trp165Leu
XM_011522984.1:c.494G>T	XP_011521286.1:p.Trp165Leu
NM_001323543.1:c.-80G>T	NP_001310472.1:n.-80G>T
NM_001323544.1:c.494G>T	NP_001310473.1:p.Trp165Leu
XM_005256301.3:c.476G>T	XP_005256358.1:p.Trp159Leu
XM_011522982.2:c.494G>T	XP_011521284.1:p.Trp165Leu
XM_017023111.2:c.494G>T	XP_016878600.1:p.Trp165Leu
XM_017023112.2:c.494G>T	XP_016878601.1:p.Trp165Leu
XM_017023113.1:c.-80G>T	XP_016878602.1:n.-80G>T
NM_000512.5:c.476G>T MANE Select	NP_000503.1:p.Trp159Leu
NM_001323543.2:c.-80G>T	NP_001310472.1:n.-80G>T
NM_001323544.2:c.494G>T	NP_001310473.1:p.Trp165Leu