Canonical Allele Identifier: CA286403009

Gene: GALNS

Linked Data

• dbSNP Id: rs892988332
• gnomAD v3: 16-88835975-G-T
• gnomAD v4: 16-88835975-G-T
• MyVariant Identifiers: chr16:g.88902383G>T (hg19) ; chr16:g.88835975G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835975G>T , CM000678.2:g.88835975G>T	GRCh38
NC_000016.9:g.88902383G>T , CM000678.1:g.88902383G>T	GRCh37
NC_000016.8:g.87429884G>T	NCBI36
NG_008667.1:g.25992C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.634-126C>A MANE Select	ENSP00000268695.5:n.634-126C>A
ENST00000268695.9:c.634-126C>A	ENSP00000268695.5:n.634-126C>A
ENST00000562593.5:n.4043-126C>A
ENST00000562831.1:c.418-126C>A	ENSP00000455174.1:n.418-126C>A
ENST00000562931.5:n.222-126C>A
ENST00000566563.1:n.336-126C>A
ENST00000567525.5:c.315-126C>A	ENSP00000454484.1:n.315-126C>A
ENST00000568613.5:c.753-126C>A	ENSP00000457921.1:n.753-126C>A
NM_000512.4:c.634-126C>A	NP_000503.1:n.634-126C>A
XM_005256301.2:c.634-126C>A	XP_005256358.1:n.634-126C>A
XM_005256302.1:c.652-126C>A	XP_005256359.1:n.652-126C>A
XM_011522982.1:c.652-126C>A	XP_011521284.1:n.652-126C>A
XM_011522984.1:c.652-126C>A	XP_011521286.1:n.652-126C>A
NM_001323543.1:c.79-126C>A	NP_001310472.1:n.79-126C>A
NM_001323544.1:c.652-126C>A	NP_001310473.1:n.652-126C>A
XM_005256301.3:c.634-126C>A	XP_005256358.1:n.634-126C>A
XM_011522982.2:c.652-126C>A	XP_011521284.1:n.652-126C>A
XM_017023111.2:c.652-126C>A	XP_016878600.1:n.652-126C>A
XM_017023112.2:c.652-126C>A	XP_016878601.1:n.652-126C>A
XM_017023113.1:c.79-126C>A	XP_016878602.1:n.79-126C>A
NM_000512.5:c.634-126C>A MANE Select	NP_000503.1:n.634-126C>A
NM_001323543.2:c.79-126C>A	NP_001310472.1:n.79-126C>A
NM_001323544.2:c.652-126C>A	NP_001310473.1:n.652-126C>A