Canonical Allele Identifier: CA624210291

Gene: GALNS

Linked Data

• dbSNP Id: rs1202534831
• gnomAD v2: 16-88884387-G-T
• gnomAD v4: 16-88817979-G-T
• MyVariant Identifiers: chr16:g.88884387G>T (hg19) ; chr16:g.88817979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88817979G>T , CM000678.2:g.88817979G>T	GRCh38
NC_000016.9:g.88884387G>T , CM000678.1:g.88884387G>T	GRCh37
NC_000016.8:g.87411888G>T	NCBI36
NG_008667.1:g.43988C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1482+28C>A MANE Select	ENSP00000268695.5:n.1482+28C>A
ENST00000268695.9:c.1482+28C>A	ENSP00000268695.5:n.1482+28C>A
ENST00000562593.5:n.4891+28C>A
ENST00000567525.5:c.1163+28C>A	ENSP00000454484.1:n.1163+28C>A
ENST00000568613.5:c.1601+28C>A	ENSP00000457921.1:n.1601+28C>A
NM_000512.4:c.1482+28C>A	NP_000503.1:n.1482+28C>A
XM_005256301.2:c.1482+28C>A	XP_005256358.1:n.1482+28C>A
XM_005256302.1:c.1500+28C>A	XP_005256359.1:n.1500+28C>A
XM_011522982.1:c.1500+28C>A	XP_011521284.1:n.1500+28C>A
XM_011522984.1:c.1500+28C>A	XP_011521286.1:n.1500+28C>A
NM_001323543.1:c.927+28C>A	NP_001310472.1:n.927+28C>A
NM_001323544.1:c.1500+28C>A	NP_001310473.1:n.1500+28C>A
XM_005256301.3:c.1482+28C>A	XP_005256358.1:n.1482+28C>A
XM_011522982.2:c.1500+28C>A	XP_011521284.1:n.1500+28C>A
XM_017023111.2:c.1500+28C>A	XP_016878600.1:n.1500+28C>A
XM_017023112.2:c.1500+28C>A	XP_016878601.1:n.1500+28C>A
XM_017023113.1:c.927+28C>A	XP_016878602.1:n.927+28C>A
NM_000512.5:c.1482+28C>A MANE Select	NP_000503.1:n.1482+28C>A
NM_001323543.2:c.927+28C>A	NP_001310472.1:n.927+28C>A
NM_001323544.2:c.1500+28C>A	NP_001310473.1:n.1500+28C>A