Canonical Allele Identifier: CA497073896
Gene: GALNS HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88901706G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835298G>A , CM000678.2:g.88835298G>A GRCh38
NC_000016.9:g.88901706G>A , CM000678.1:g.88901706G>A GRCh37
NC_000016.8:g.87429207G>A NCBI36
NG_008667.1:g.26669C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.813C>T MANE Select ENSP00000268695.5:p.Leu271=
ENST00000268695.9:c.813C>T ENSP00000268695.5:p.Leu271=
ENST00000562593.5:n.4222C>T
ENST00000562931.5:n.401C>T
ENST00000567525.5:c.494C>T ENSP00000454484.1:n.494C>T
ENST00000568613.5:c.932C>T ENSP00000457921.1:n.932C>T
NM_000512.4:c.813C>T NP_000503.1:p.Leu271=
XM_005256301.2:c.813C>T XP_005256358.1:p.Leu271=
XM_005256302.1:c.831C>T XP_005256359.1:p.Leu277=
XM_011522982.1:c.831C>T XP_011521284.1:p.Leu277=
XM_011522984.1:c.831C>T XP_011521286.1:p.Leu277=
NM_001323543.1:c.258C>T NP_001310472.1:p.Leu86=
NM_001323544.1:c.831C>T NP_001310473.1:p.Leu277=
XM_005256301.3:c.813C>T XP_005256358.1:p.Leu271=
XM_011522982.2:c.831C>T XP_011521284.1:p.Leu277=
XM_017023111.2:c.831C>T XP_016878600.1:p.Leu277=
XM_017023112.2:c.831C>T XP_016878601.1:p.Leu277=
XM_017023113.1:c.258C>T XP_016878602.1:p.Leu86=
NM_000512.5:c.813C>T MANE Select NP_000503.1:p.Leu271=
NM_001323543.2:c.258C>T NP_001310472.1:p.Leu86=
NM_001323544.2:c.831C>T NP_001310473.1:p.Leu277=