Canonical Allele Identifier: CA286403156

Gene: GALNS

Linked Data

• dbSNP Id: rs543767650
• gnomAD v2: 16-88902531-C-T
• gnomAD v3: 16-88836123-C-T
• gnomAD v4: 16-88836123-C-T
• MyVariant Identifiers: chr16:g.88902531C>T (hg19) ; chr16:g.88836123C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836123C>T , CM000678.2:g.88836123C>T	GRCh38
NC_000016.9:g.88902531C>T , CM000678.1:g.88902531C>T	GRCh37
NC_000016.8:g.87430032C>T	NCBI36
NG_008667.1:g.25844G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+78G>A MANE Select	ENSP00000268695.5:n.633+78G>A
ENST00000268695.9:c.633+78G>A	ENSP00000268695.5:n.633+78G>A
ENST00000562593.5:n.4042+78G>A
ENST00000562831.1:c.417+78G>A	ENSP00000455174.1:n.417+78G>A
ENST00000562931.5:n.221+78G>A
ENST00000566563.1:n.335+78G>A
ENST00000567525.5:c.314+78G>A	ENSP00000454484.1:n.314+78G>A
ENST00000568613.5:c.752+78G>A	ENSP00000457921.1:n.752+78G>A
NM_000512.4:c.633+78G>A	NP_000503.1:n.633+78G>A
XM_005256301.2:c.633+78G>A	XP_005256358.1:n.633+78G>A
XM_005256302.1:c.651+78G>A	XP_005256359.1:n.651+78G>A
XM_011522982.1:c.651+78G>A	XP_011521284.1:n.651+78G>A
XM_011522984.1:c.651+78G>A	XP_011521286.1:n.651+78G>A
NM_001323543.1:c.78+78G>A	NP_001310472.1:n.78+78G>A
NM_001323544.1:c.651+78G>A	NP_001310473.1:n.651+78G>A
XM_005256301.3:c.633+78G>A	XP_005256358.1:n.633+78G>A
XM_011522982.2:c.651+78G>A	XP_011521284.1:n.651+78G>A
XM_017023111.2:c.651+78G>A	XP_016878600.1:n.651+78G>A
XM_017023112.2:c.651+78G>A	XP_016878601.1:n.651+78G>A
XM_017023113.1:c.78+78G>A	XP_016878602.1:n.78+78G>A
NM_000512.5:c.633+78G>A MANE Select	NP_000503.1:n.633+78G>A
NM_001323543.2:c.78+78G>A	NP_001310472.1:n.78+78G>A
NM_001323544.2:c.651+78G>A	NP_001310473.1:n.651+78G>A