Canonical Allele Identifier: CA8235077

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048418
• ClinVar RCV Id: RCV001578520
• dbSNP Id: rs569725936
• ExAC: 16:88902631 T / G
• gnomAD v2: 16-88902631-T-G
• gnomAD v3: 16-88836223-T-G
• gnomAD v4: 16-88836223-T-G
• MyVariant Identifiers: chr16:g.88902631T>G (hg19) ; chr16:g.88836223T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836223T>G , CM000678.2:g.88836223T>G	GRCh38
NC_000016.9:g.88902631T>G , CM000678.1:g.88902631T>G	GRCh37
NC_000016.8:g.87430132T>G	NCBI36
NG_008667.1:g.25744A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.611A>C MANE Select	ENSP00000268695.5:p.Asn204Thr
ENST00000268695.9:c.611A>C	ENSP00000268695.5:p.Asn204Thr
ENST00000562593.5:n.4020A>C
ENST00000562831.1:c.395A>C	ENSP00000455174.1:p.Asn132Thr
ENST00000562931.5:n.199A>C
ENST00000566563.1:n.313A>C
ENST00000567525.5:c.292A>C	ENSP00000454484.1:n.292A>C
ENST00000568613.5:c.730A>C	ENSP00000457921.1:n.730A>C
NM_000512.4:c.611A>C	NP_000503.1:p.Asn204Thr
XM_005256301.2:c.611A>C	XP_005256358.1:p.Asn204Thr
XM_005256302.1:c.629A>C	XP_005256359.1:p.Asn210Thr
XM_011522982.1:c.629A>C	XP_011521284.1:p.Asn210Thr
XM_011522984.1:c.629A>C	XP_011521286.1:p.Asn210Thr
NM_001323543.1:c.56A>C	NP_001310472.1:p.Asn19Thr
NM_001323544.1:c.629A>C	NP_001310473.1:p.Asn210Thr
XM_005256301.3:c.611A>C	XP_005256358.1:p.Asn204Thr
XM_011522982.2:c.629A>C	XP_011521284.1:p.Asn210Thr
XM_017023111.2:c.629A>C	XP_016878600.1:p.Asn210Thr
XM_017023112.2:c.629A>C	XP_016878601.1:p.Asn210Thr
XM_017023113.1:c.56A>C	XP_016878602.1:p.Asn19Thr
NM_000512.5:c.611A>C MANE Select	NP_000503.1:p.Asn204Thr
NM_001323543.2:c.56A>C	NP_001310472.1:p.Asn19Thr
NM_001323544.2:c.629A>C	NP_001310473.1:p.Asn210Thr