Canonical Allele Identifier: CA397097586

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824813T>G , CM000678.2:g.88824813T>G	GRCh38
NC_000016.9:g.88891221T>G , CM000678.1:g.88891221T>G	GRCh37
NC_000016.8:g.87418722T>G	NCBI36
NG_008667.1:g.37154A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1196A>C MANE Select	NP_000503.1:p.Lys399Thr
ENST00000268695.10:c.1196A>C MANE Select	ENSP00000268695.5:p.Lys399Thr
NM_000512.4:c.1196A>C	NP_000503.1:p.Lys399Thr
NM_001323543.1:c.641A>C	NP_001310472.1:p.Lys214Thr
NM_001323543.2:c.641A>C	NP_001310472.1:p.Lys214Thr
NM_001323544.1:c.1214A>C	NP_001310473.1:p.Lys405Thr
NM_001323544.2:c.1214A>C	NP_001310473.1:p.Lys405Thr
ENST00000268695.9:c.1196A>C	ENSP00000268695.5:p.Lys399Thr
ENST00000562593.5:n.4605A>C
ENST00000564263.1:n.472A>C
ENST00000567525.5:c.877A>C	ENSP00000454484.1:n.877A>C
ENST00000568613.5:c.1315A>C	ENSP00000457921.1:n.1315A>C
XM_005256301.2:c.1196A>C	XP_005256358.1:p.Lys399Thr
XM_005256301.3:c.1196A>C	XP_005256358.1:p.Lys399Thr
XM_005256302.1:c.1214A>C	XP_005256359.1:p.Lys405Thr
XM_011522982.1:c.1214A>C	XP_011521284.1:p.Lys405Thr
XM_011522982.2:c.1214A>C	XP_011521284.1:p.Lys405Thr
XM_011522984.1:c.1214A>C	XP_011521286.1:p.Lys405Thr
XM_017023111.2:c.1214A>C	XP_016878600.1:p.Lys405Thr
XM_017023112.2:c.1214A>C	XP_016878601.1:p.Lys405Thr
XM_017023113.1:c.641A>C	XP_016878602.1:p.Lys214Thr