Canonical Allele Identifier: CA497108496

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88893142G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826734G>A , CM000678.2:g.88826734G>A	GRCh38
NC_000016.9:g.88893142G>A , CM000678.1:g.88893142G>A	GRCh37
NC_000016.8:g.87420643G>A	NCBI36
NG_008667.1:g.35233C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1107C>T MANE Select	ENSP00000268695.5:p.Leu369=
ENST00000268695.9:c.1107C>T	ENSP00000268695.5:p.Leu369=
ENST00000562593.5:n.4516C>T
ENST00000564263.1:n.383C>T
ENST00000567525.5:c.788C>T	ENSP00000454484.1:n.788C>T
ENST00000568613.5:c.1226C>T	ENSP00000457921.1:n.1226C>T
NM_000512.4:c.1107C>T	NP_000503.1:p.Leu369=
XM_005256301.2:c.1107C>T	XP_005256358.1:p.Leu369=
XM_005256302.1:c.1125C>T	XP_005256359.1:p.Leu375=
XM_011522982.1:c.1125C>T	XP_011521284.1:p.Leu375=
XM_011522984.1:c.1125C>T	XP_011521286.1:p.Leu375=
NM_001323543.1:c.552C>T	NP_001310472.1:p.Leu184=
NM_001323544.1:c.1125C>T	NP_001310473.1:p.Leu375=
XM_005256301.3:c.1107C>T	XP_005256358.1:p.Leu369=
XM_011522982.2:c.1125C>T	XP_011521284.1:p.Leu375=
XM_017023111.2:c.1125C>T	XP_016878600.1:p.Leu375=
XM_017023112.2:c.1125C>T	XP_016878601.1:p.Leu375=
XM_017023113.1:c.552C>T	XP_016878602.1:p.Leu184=
NM_000512.5:c.1107C>T MANE Select	NP_000503.1:p.Leu369=
NM_001323543.2:c.552C>T	NP_001310472.1:p.Leu184=
NM_001323544.2:c.1125C>T	NP_001310473.1:p.Leu375=