Canonical Allele Identifier: CA397088385

Gene: GALNS

Linked Data

• gnomAD v4: 16-88841090-G-T
• MyVariant Identifiers: chr16:g.88907498G>T (hg19) ; chr16:g.88841090G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841090G>T , CM000678.2:g.88841090G>T	GRCh38
NC_000016.9:g.88907498G>T , CM000678.1:g.88907498G>T	GRCh37
NC_000016.8:g.87434999G>T	NCBI36
NG_008667.1:g.20877C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.324C>A MANE Select	ENSP00000268695.5:p.Tyr108Ter
ENST00000268695.9:c.324C>A	ENSP00000268695.5:p.Tyr108Ter
ENST00000562593.5:n.3733C>A
ENST00000562831.1:c.108C>A	ENSP00000455174.1:p.Tyr36Ter
ENST00000565364.1:n.459C>A
ENST00000567525.5:c.149C>A	ENSP00000454484.1:p.Thr50Lys
ENST00000567779.1:n.154C>A
ENST00000568613.5:c.443C>A	ENSP00000457921.1:n.443C>A
NM_000512.4:c.324C>A	NP_000503.1:p.Tyr108Ter
XM_005256301.2:c.324C>A	XP_005256358.1:p.Tyr108Ter
XM_005256302.1:c.342C>A	XP_005256359.1:p.Tyr114Ter
XM_011522982.1:c.342C>A	XP_011521284.1:p.Tyr114Ter
XM_011522984.1:c.342C>A	XP_011521286.1:p.Tyr114Ter
NM_001323543.1:c.-232C>A	NP_001310472.1:n.-232C>A
NM_001323544.1:c.342C>A	NP_001310473.1:p.Tyr114Ter
XM_005256301.3:c.324C>A	XP_005256358.1:p.Tyr108Ter
XM_011522982.2:c.342C>A	XP_011521284.1:p.Tyr114Ter
XM_017023111.2:c.342C>A	XP_016878600.1:p.Tyr114Ter
XM_017023112.2:c.342C>A	XP_016878601.1:p.Tyr114Ter
XM_017023113.1:c.-232C>A	XP_016878602.1:n.-232C>A
NM_000512.5:c.324C>A MANE Select	NP_000503.1:p.Tyr108Ter
NM_001323543.2:c.-232C>A	NP_001310472.1:n.-232C>A
NM_001323544.2:c.342C>A	NP_001310473.1:p.Tyr114Ter