Canonical Allele Identifier: CA397097672

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048235
• ClinVar RCV Id: RCV001578337
• dbSNP Id: rs2142993863
• MyVariant Identifiers: chr16:g.88891248A>G (hg19) ; chr16:g.88824840A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824840A>G , CM000678.2:g.88824840A>G	GRCh38
NC_000016.9:g.88891248A>G , CM000678.1:g.88891248A>G	GRCh37
NC_000016.8:g.87418749A>G	NCBI36
NG_008667.1:g.37127T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1169T>C MANE Select	ENSP00000268695.5:p.Leu390Pro
ENST00000268695.9:c.1169T>C	ENSP00000268695.5:p.Leu390Pro
ENST00000562593.5:n.4578T>C
ENST00000564263.1:n.445T>C
ENST00000567525.5:c.850T>C	ENSP00000454484.1:n.850T>C
ENST00000568613.5:c.1288T>C	ENSP00000457921.1:n.1288T>C
NM_000512.4:c.1169T>C	NP_000503.1:p.Leu390Pro
XM_005256301.2:c.1169T>C	XP_005256358.1:p.Leu390Pro
XM_005256302.1:c.1187T>C	XP_005256359.1:p.Leu396Pro
XM_011522982.1:c.1187T>C	XP_011521284.1:p.Leu396Pro
XM_011522984.1:c.1187T>C	XP_011521286.1:p.Leu396Pro
NM_001323543.1:c.614T>C	NP_001310472.1:p.Leu205Pro
NM_001323544.1:c.1187T>C	NP_001310473.1:p.Leu396Pro
XM_005256301.3:c.1169T>C	XP_005256358.1:p.Leu390Pro
XM_011522982.2:c.1187T>C	XP_011521284.1:p.Leu396Pro
XM_017023111.2:c.1187T>C	XP_016878600.1:p.Leu396Pro
XM_017023112.2:c.1187T>C	XP_016878601.1:p.Leu396Pro
XM_017023113.1:c.614T>C	XP_016878602.1:p.Leu205Pro
NM_000512.5:c.1169T>C MANE Select	NP_000503.1:p.Leu390Pro
NM_001323543.2:c.614T>C	NP_001310472.1:p.Leu205Pro
NM_001323544.2:c.1187T>C	NP_001310473.1:p.Leu396Pro