Canonical Allele Identifier: CA397091225

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88842720G>A , CM000678.2:g.88842720G>A	GRCh38
NC_000016.9:g.88909128G>A , CM000678.1:g.88909128G>A	GRCh37
NC_000016.8:g.87436629G>A	NCBI36
NG_008667.1:g.19247C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.230C>T MANE Select	NP_000503.1:p.Pro77Leu
ENST00000268695.10:c.230C>T MANE Select	ENSP00000268695.5:p.Pro77Leu
NM_000512.4:c.230C>T	NP_000503.1:p.Pro77Leu
NM_001323543.1:c.-311-749C>T	NP_001310472.1:n.-311-749C>T
NM_001323543.2:c.-311-749C>T	NP_001310472.1:n.-311-749C>T
NM_001323544.1:c.248C>T	NP_001310473.1:p.Pro83Leu
NM_001323544.2:c.248C>T	NP_001310473.1:p.Pro83Leu
ENST00000268695.9:c.230C>T	ENSP00000268695.5:p.Pro77Leu
ENST00000562593.5:n.2905C>T
ENST00000562831.1:c.29-749C>T	ENSP00000455174.1:n.29-749C>T
ENST00000565364.1:n.365C>T
ENST00000567525.5:c.70-749C>T	ENSP00000454484.1:n.70-749C>T
ENST00000568613.5:c.349C>T	ENSP00000457921.1:n.349C>T
XM_005256301.2:c.230C>T	XP_005256358.1:p.Pro77Leu
XM_005256301.3:c.230C>T	XP_005256358.1:p.Pro77Leu
XM_005256302.1:c.248C>T	XP_005256359.1:p.Pro83Leu
XM_011522982.1:c.248C>T	XP_011521284.1:p.Pro83Leu
XM_011522982.2:c.248C>T	XP_011521284.1:p.Pro83Leu
XM_011522984.1:c.248C>T	XP_011521286.1:p.Pro83Leu
XM_017023111.2:c.248C>T	XP_016878600.1:p.Pro83Leu
XM_017023112.2:c.248C>T	XP_016878601.1:p.Pro83Leu
XM_017023113.1:c.-311-749C>T	XP_016878602.1:n.-311-749C>T