Canonical Allele Identifier: CA725640704

Gene: GALNS

Linked Data

• dbSNP Id: rs1157816276
• gnomAD v3: 16-88835543-C-A
• gnomAD v4: 16-88835543-C-A
• MyVariant Identifiers: chr16:g.88901951C>A (hg19) ; chr16:g.88835543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835543C>A , CM000678.2:g.88835543C>A	GRCh38
NC_000016.9:g.88901951C>A , CM000678.1:g.88901951C>A	GRCh37
NC_000016.8:g.87429452C>A	NCBI36
NG_008667.1:g.26424G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.758+182G>T MANE Select	ENSP00000268695.5:n.758+182G>T
ENST00000268695.9:c.758+182G>T	ENSP00000268695.5:n.758+182G>T
ENST00000562593.5:n.4167+182G>T
ENST00000562931.5:n.346+182G>T
ENST00000567525.5:c.439+182G>T	ENSP00000454484.1:n.439+182G>T
ENST00000568613.5:c.877+182G>T	ENSP00000457921.1:n.877+182G>T
NM_000512.4:c.758+182G>T	NP_000503.1:n.758+182G>T
XM_005256301.2:c.758+182G>T	XP_005256358.1:n.758+182G>T
XM_005256302.1:c.776+182G>T	XP_005256359.1:n.776+182G>T
XM_011522982.1:c.776+182G>T	XP_011521284.1:n.776+182G>T
XM_011522984.1:c.776+182G>T	XP_011521286.1:n.776+182G>T
NM_001323543.1:c.203+182G>T	NP_001310472.1:n.203+182G>T
NM_001323544.1:c.776+182G>T	NP_001310473.1:n.776+182G>T
XM_005256301.3:c.758+182G>T	XP_005256358.1:n.758+182G>T
XM_011522982.2:c.776+182G>T	XP_011521284.1:n.776+182G>T
XM_017023111.2:c.776+182G>T	XP_016878600.1:n.776+182G>T
XM_017023112.2:c.776+182G>T	XP_016878601.1:n.776+182G>T
XM_017023113.1:c.203+182G>T	XP_016878602.1:n.203+182G>T
NM_000512.5:c.758+182G>T MANE Select	NP_000503.1:n.758+182G>T
NM_001323543.2:c.203+182G>T	NP_001310472.1:n.203+182G>T
NM_001323544.2:c.776+182G>T	NP_001310473.1:n.776+182G>T