Canonical Allele Identifier: CA497073678

Gene: GALNS

Linked Data

• dbSNP Id: rs1476444825
• gnomAD v2: 16-88901667-G-A
• gnomAD v4: 16-88835259-G-A
• MyVariant Identifiers: chr16:g.88901667G>A (hg19) ; chr16:g.88835259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835259G>A , CM000678.2:g.88835259G>A	GRCh38
NC_000016.9:g.88901667G>A , CM000678.1:g.88901667G>A	GRCh37
NC_000016.8:g.87429168G>A	NCBI36
NG_008667.1:g.26708C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.852C>T MANE Select	ENSP00000268695.5:p.Phe284=
ENST00000268695.9:c.852C>T	ENSP00000268695.5:p.Phe284=
ENST00000562593.5:n.4261C>T
ENST00000562931.5:n.440C>T
ENST00000567525.5:c.533C>T	ENSP00000454484.1:n.533C>T
ENST00000568613.5:c.971C>T	ENSP00000457921.1:n.971C>T
NM_000512.4:c.852C>T	NP_000503.1:p.Phe284=
XM_005256301.2:c.852C>T	XP_005256358.1:p.Phe284=
XM_005256302.1:c.870C>T	XP_005256359.1:p.Phe290=
XM_011522982.1:c.870C>T	XP_011521284.1:p.Phe290=
XM_011522984.1:c.870C>T	XP_011521286.1:p.Phe290=
NM_001323543.1:c.297C>T	NP_001310472.1:p.Phe99=
NM_001323544.1:c.870C>T	NP_001310473.1:p.Phe290=
XM_005256301.3:c.852C>T	XP_005256358.1:p.Phe284=
XM_011522982.2:c.870C>T	XP_011521284.1:p.Phe290=
XM_017023111.2:c.870C>T	XP_016878600.1:p.Phe290=
XM_017023112.2:c.870C>T	XP_016878601.1:p.Phe290=
XM_017023113.1:c.297C>T	XP_016878602.1:p.Phe99=
NM_000512.5:c.852C>T MANE Select	NP_000503.1:p.Phe284=
NM_001323543.2:c.297C>T	NP_001310472.1:p.Phe99=
NM_001323544.2:c.870C>T	NP_001310473.1:p.Phe290=