Canonical Allele Identifier: CA8235138

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837755G>A , CM000678.2:g.88837755G>A	GRCh38
NC_000016.9:g.88904163G>A , CM000678.1:g.88904163G>A	GRCh37
NC_000016.8:g.87431664G>A	NCBI36
NG_008667.1:g.24212C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.433C>T MANE Select	NP_000503.1:p.His145Tyr
ENST00000268695.10:c.433C>T MANE Select	ENSP00000268695.5:p.His145Tyr
NM_000512.4:c.433C>T	NP_000503.1:p.His145Tyr
NM_001323543.1:c.-123C>T	NP_001310472.1:n.-123C>T
NM_001323543.2:c.-123C>T	NP_001310472.1:n.-123C>T
NM_001323544.1:c.451C>T	NP_001310473.1:p.His151Tyr
NM_001323544.2:c.451C>T	NP_001310473.1:p.His151Tyr
ENST00000268695.9:c.433C>T	ENSP00000268695.5:p.His145Tyr
ENST00000561812.1:n.389C>T
ENST00000562593.5:n.3842C>T
ENST00000562831.1:c.217C>T	ENSP00000455174.1:p.His73Tyr
ENST00000562931.5:n.21C>T
ENST00000566563.1:n.135C>T
ENST00000567525.5:c.248-1488C>T	ENSP00000454484.1:n.248-1488C>T
ENST00000568613.5:c.552C>T	ENSP00000457921.1:n.552C>T
XM_005256301.2:c.433C>T	XP_005256358.1:p.His145Tyr
XM_005256301.3:c.433C>T	XP_005256358.1:p.His145Tyr
XM_005256302.1:c.451C>T	XP_005256359.1:p.His151Tyr
XM_011522982.1:c.451C>T	XP_011521284.1:p.His151Tyr
XM_011522982.2:c.451C>T	XP_011521284.1:p.His151Tyr
XM_011522984.1:c.451C>T	XP_011521286.1:p.His151Tyr
XM_017023111.2:c.451C>T	XP_016878600.1:p.His151Tyr
XM_017023112.2:c.451C>T	XP_016878601.1:p.His151Tyr
XM_017023113.1:c.-123C>T	XP_016878602.1:n.-123C>T