Canonical Allele Identifier: CA8235132

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837736G>A , CM000678.2:g.88837736G>A	GRCh38
NC_000016.9:g.88904144G>A , CM000678.1:g.88904144G>A	GRCh37
NC_000016.8:g.87431645G>A	NCBI36
NG_008667.1:g.24231C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.452C>T MANE Select	NP_000503.1:p.Pro151Leu
ENST00000268695.10:c.452C>T MANE Select	ENSP00000268695.5:p.Pro151Leu
NM_000512.4:c.452C>T	NP_000503.1:p.Pro151Leu
NM_001323543.1:c.-104C>T	NP_001310472.1:n.-104C>T
NM_001323543.2:c.-104C>T	NP_001310472.1:n.-104C>T
NM_001323544.1:c.470C>T	NP_001310473.1:p.Pro157Leu
NM_001323544.2:c.470C>T	NP_001310473.1:p.Pro157Leu
ENST00000268695.9:c.452C>T	ENSP00000268695.5:p.Pro151Leu
ENST00000561812.1:n.408C>T
ENST00000562593.5:n.3861C>T
ENST00000562831.1:c.236C>T	ENSP00000455174.1:p.Pro79Leu
ENST00000562931.5:n.40C>T
ENST00000566563.1:n.154C>T
ENST00000567525.5:c.248-1469C>T	ENSP00000454484.1:n.248-1469C>T
ENST00000568613.5:c.571C>T	ENSP00000457921.1:n.571C>T
XM_005256301.2:c.452C>T	XP_005256358.1:p.Pro151Leu
XM_005256301.3:c.452C>T	XP_005256358.1:p.Pro151Leu
XM_005256302.1:c.470C>T	XP_005256359.1:p.Pro157Leu
XM_011522982.1:c.470C>T	XP_011521284.1:p.Pro157Leu
XM_011522982.2:c.470C>T	XP_011521284.1:p.Pro157Leu
XM_011522984.1:c.470C>T	XP_011521286.1:p.Pro157Leu
XM_017023111.2:c.470C>T	XP_016878600.1:p.Pro157Leu
XM_017023112.2:c.470C>T	XP_016878601.1:p.Pro157Leu
XM_017023113.1:c.-104C>T	XP_016878602.1:n.-104C>T