Canonical Allele Identifier: CA8235172

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1428872
• ClinVar RCV Id: RCV001936520
• dbSNP Id: rs140018158
• ExAC: 16:88907410 C / T
• gnomAD v2: 16-88907410-C-T
• gnomAD v3: 16-88841002-C-T
• gnomAD v4: 16-88841002-C-T
• MyVariant Identifiers: chr16:g.88907410C>T (hg19) ; chr16:g.88841002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841002C>T , CM000678.2:g.88841002C>T	GRCh38
NC_000016.9:g.88907410C>T , CM000678.1:g.88907410C>T	GRCh37
NC_000016.8:g.87434911C>T	NCBI36
NG_008667.1:g.20965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.412G>A MANE Select	ENSP00000268695.5:p.Val138Ile
ENST00000268695.9:c.412G>A	ENSP00000268695.5:p.Val138Ile
ENST00000562593.5:n.3821G>A
ENST00000562831.1:c.196G>A	ENSP00000455174.1:p.Val66Ile
ENST00000565364.1:n.547G>A
ENST00000567525.5:c.237G>A	ENSP00000454484.1:n.237G>A
ENST00000567779.1:n.242G>A
ENST00000568613.5:c.531G>A	ENSP00000457921.1:n.531G>A
NM_000512.4:c.412G>A	NP_000503.1:p.Val138Ile
XM_005256301.2:c.412G>A	XP_005256358.1:p.Val138Ile
XM_005256302.1:c.430G>A	XP_005256359.1:p.Val144Ile
XM_011522982.1:c.430G>A	XP_011521284.1:p.Val144Ile
XM_011522984.1:c.430G>A	XP_011521286.1:p.Val144Ile
NM_001323543.1:c.-144G>A	NP_001310472.1:n.-144G>A
NM_001323544.1:c.430G>A	NP_001310473.1:p.Val144Ile
XM_005256301.3:c.412G>A	XP_005256358.1:p.Val138Ile
XM_011522982.2:c.430G>A	XP_011521284.1:p.Val144Ile
XM_017023111.2:c.430G>A	XP_016878600.1:p.Val144Ile
XM_017023112.2:c.430G>A	XP_016878601.1:p.Val144Ile
XM_017023113.1:c.-144G>A	XP_016878602.1:n.-144G>A
NM_000512.5:c.412G>A MANE Select	NP_000503.1:p.Val138Ile
NM_001323543.2:c.-144G>A	NP_001310472.1:n.-144G>A
NM_001323544.2:c.430G>A	NP_001310473.1:p.Val144Ile