Canonical Allele Identifier: CA397082740

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837653G>A , CM000678.2:g.88837653G>A	GRCh38
NC_000016.9:g.88904061G>A , CM000678.1:g.88904061G>A	GRCh37
NC_000016.8:g.87431562G>A	NCBI36
NG_008667.1:g.24314C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.535C>T MANE Select	NP_000503.1:p.Pro179Ser
ENST00000268695.10:c.535C>T MANE Select	ENSP00000268695.5:p.Pro179Ser
NM_000512.4:c.535C>T	NP_000503.1:p.Pro179Ser
NM_001323543.1:c.-21C>T	NP_001310472.1:n.-21C>T
NM_001323543.2:c.-21C>T	NP_001310472.1:n.-21C>T
NM_001323544.1:c.553C>T	NP_001310473.1:p.Pro185Ser
NM_001323544.2:c.553C>T	NP_001310473.1:p.Pro185Ser
ENST00000268695.9:c.535C>T	ENSP00000268695.5:p.Pro179Ser
ENST00000561812.1:n.491C>T
ENST00000562593.5:n.3944C>T
ENST00000562831.1:c.319C>T	ENSP00000455174.1:p.Pro107Ser
ENST00000562931.5:n.123C>T
ENST00000566563.1:n.237C>T
ENST00000567525.5:c.248-1386C>T	ENSP00000454484.1:n.248-1386C>T
ENST00000568613.5:c.654C>T	ENSP00000457921.1:n.654C>T
XM_005256301.2:c.535C>T	XP_005256358.1:p.Pro179Ser
XM_005256301.3:c.535C>T	XP_005256358.1:p.Pro179Ser
XM_005256302.1:c.553C>T	XP_005256359.1:p.Pro185Ser
XM_011522982.1:c.553C>T	XP_011521284.1:p.Pro185Ser
XM_011522982.2:c.553C>T	XP_011521284.1:p.Pro185Ser
XM_011522984.1:c.553C>T	XP_011521286.1:p.Pro185Ser
XM_017023111.2:c.553C>T	XP_016878600.1:p.Pro185Ser
XM_017023112.2:c.553C>T	XP_016878601.1:p.Pro185Ser
XM_017023113.1:c.-21C>T	XP_016878602.1:n.-21C>T