Canonical Allele Identifier: CA286406739

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88842836G>C , CM000678.2:g.88842836G>C	GRCh38
NC_000016.9:g.88909244G>C , CM000678.1:g.88909244G>C	GRCh37
NC_000016.8:g.87436745G>C	NCBI36
NG_008667.1:g.19131C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.121-7C>G MANE Select	NP_000503.1:n.121-7C>G
ENST00000268695.10:c.121-7C>G MANE Select	ENSP00000268695.5:n.121-7C>G
NM_000512.4:c.121-7C>G	NP_000503.1:n.121-7C>G
NM_001323543.1:c.-311-865C>G	NP_001310472.1:n.-311-865C>G
NM_001323543.2:c.-311-865C>G	NP_001310472.1:n.-311-865C>G
NM_001323544.1:c.139-7C>G	NP_001310473.1:n.139-7C>G
NM_001323544.2:c.139-7C>G	NP_001310473.1:n.139-7C>G
ENST00000268695.9:c.121-7C>G	ENSP00000268695.5:n.121-7C>G
ENST00000562593.5:n.2789C>G
ENST00000562831.1:c.29-865C>G	ENSP00000455174.1:n.29-865C>G
ENST00000565364.1:n.256-7C>G
ENST00000567525.5:c.70-865C>G	ENSP00000454484.1:n.70-865C>G
ENST00000568613.5:c.240-7C>G	ENSP00000457921.1:n.240-7C>G
XM_005256301.2:c.121-7C>G	XP_005256358.1:n.121-7C>G
XM_005256301.3:c.121-7C>G	XP_005256358.1:n.121-7C>G
XM_005256302.1:c.139-7C>G	XP_005256359.1:n.139-7C>G
XM_011522982.1:c.139-7C>G	XP_011521284.1:n.139-7C>G
XM_011522982.2:c.139-7C>G	XP_011521284.1:n.139-7C>G
XM_011522984.1:c.139-7C>G	XP_011521286.1:n.139-7C>G
XM_017023111.2:c.139-7C>G	XP_016878600.1:n.139-7C>G
XM_017023112.2:c.139-7C>G	XP_016878601.1:n.139-7C>G
XM_017023113.1:c.-311-865C>G	XP_016878602.1:n.-311-865C>G