Canonical Allele Identifier: CA397098195

Gene: GALNS

Linked Data

• dbSNP Id: rs1369640922
• gnomAD v2: 16-88893135-G-A
• gnomAD v4: 16-88826727-G-A
• MyVariant Identifiers: chr16:g.88893135G>A (hg19) ; chr16:g.88826727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826727G>A , CM000678.2:g.88826727G>A	GRCh38
NC_000016.9:g.88893135G>A , CM000678.1:g.88893135G>A	GRCh37
NC_000016.8:g.87420636G>A	NCBI36
NG_008667.1:g.35240C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1114C>T MANE Select	ENSP00000268695.5:p.Leu372Phe
ENST00000268695.9:c.1114C>T	ENSP00000268695.5:p.Leu372Phe
ENST00000562593.5:n.4523C>T
ENST00000564263.1:n.390C>T
ENST00000567525.5:c.795C>T	ENSP00000454484.1:n.795C>T
ENST00000568613.5:c.1233C>T	ENSP00000457921.1:n.1233C>T
NM_000512.4:c.1114C>T	NP_000503.1:p.Leu372Phe
XM_005256301.2:c.1114C>T	XP_005256358.1:p.Leu372Phe
XM_005256302.1:c.1132C>T	XP_005256359.1:p.Leu378Phe
XM_011522982.1:c.1132C>T	XP_011521284.1:p.Leu378Phe
XM_011522984.1:c.1132C>T	XP_011521286.1:p.Leu378Phe
NM_001323543.1:c.559C>T	NP_001310472.1:p.Leu187Phe
NM_001323544.1:c.1132C>T	NP_001310473.1:p.Leu378Phe
XM_005256301.3:c.1114C>T	XP_005256358.1:p.Leu372Phe
XM_011522982.2:c.1132C>T	XP_011521284.1:p.Leu378Phe
XM_017023111.2:c.1132C>T	XP_016878600.1:p.Leu378Phe
XM_017023112.2:c.1132C>T	XP_016878601.1:p.Leu378Phe
XM_017023113.1:c.559C>T	XP_016878602.1:p.Leu187Phe
NM_000512.5:c.1114C>T MANE Select	NP_000503.1:p.Leu372Phe
NM_001323543.2:c.559C>T	NP_001310472.1:p.Leu187Phe
NM_001323544.2:c.1132C>T	NP_001310473.1:p.Leu378Phe