Canonical Allele Identifier: CA397092190

Gene: GALNS

Linked Data

• ClinVar Variation Id: 520822
• ClinVar RCV Id: RCV000624617 ; RCV001578482
• dbSNP Id: rs1555523411
• MyVariant Identifiers: chr16:g.88909236A>T (hg19) ; chr16:g.88842828A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88842828A>T , CM000678.2:g.88842828A>T	GRCh38
NC_000016.9:g.88909236A>T , CM000678.1:g.88909236A>T	GRCh37
NC_000016.8:g.87436737A>T	NCBI36
NG_008667.1:g.19139T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.122T>A MANE Select	ENSP00000268695.5:p.Met41Lys
ENST00000268695.9:c.122T>A	ENSP00000268695.5:p.Met41Lys
ENST00000562593.5:n.2797T>A
ENST00000562831.1:c.29-857T>A	ENSP00000455174.1:n.29-857T>A
ENST00000565364.1:n.257T>A
ENST00000567525.5:c.70-857T>A	ENSP00000454484.1:n.70-857T>A
ENST00000568613.5:c.241T>A	ENSP00000457921.1:n.241T>A
NM_000512.4:c.122T>A	NP_000503.1:p.Met41Lys
XM_005256301.2:c.122T>A	XP_005256358.1:p.Met41Lys
XM_005256302.1:c.140T>A	XP_005256359.1:p.Met47Lys
XM_011522982.1:c.140T>A	XP_011521284.1:p.Met47Lys
XM_011522984.1:c.140T>A	XP_011521286.1:p.Met47Lys
NM_001323543.1:c.-311-857T>A	NP_001310472.1:n.-311-857T>A
NM_001323544.1:c.140T>A	NP_001310473.1:p.Met47Lys
XM_005256301.3:c.122T>A	XP_005256358.1:p.Met41Lys
XM_011522982.2:c.140T>A	XP_011521284.1:p.Met47Lys
XM_017023111.2:c.140T>A	XP_016878600.1:p.Met47Lys
XM_017023112.2:c.140T>A	XP_016878601.1:p.Met47Lys
XM_017023113.1:c.-311-857T>A	XP_016878602.1:n.-311-857T>A
NM_000512.5:c.122T>A MANE Select	NP_000503.1:p.Met41Lys
NM_001323543.2:c.-311-857T>A	NP_001310472.1:n.-311-857T>A
NM_001323544.2:c.140T>A	NP_001310473.1:p.Met47Lys