Canonical Allele Identifier: CA397087681

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88907415T>G (hg19) ; chr16:g.88841007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841007T>G , CM000678.2:g.88841007T>G	GRCh38
NC_000016.9:g.88907415T>G , CM000678.1:g.88907415T>G	GRCh37
NC_000016.8:g.87434916T>G	NCBI36
NG_008667.1:g.20960A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.407A>C MANE Select	ENSP00000268695.5:p.Lys136Thr
ENST00000268695.9:c.407A>C	ENSP00000268695.5:p.Lys136Thr
ENST00000562593.5:n.3816A>C
ENST00000562831.1:c.191A>C	ENSP00000455174.1:p.Lys64Thr
ENST00000565364.1:n.542A>C
ENST00000567525.5:c.232A>C	ENSP00000454484.1:n.232A>C
ENST00000567779.1:n.237A>C
ENST00000568613.5:c.526A>C	ENSP00000457921.1:n.526A>C
NM_000512.4:c.407A>C	NP_000503.1:p.Lys136Thr
XM_005256301.2:c.407A>C	XP_005256358.1:p.Lys136Thr
XM_005256302.1:c.425A>C	XP_005256359.1:p.Lys142Thr
XM_011522982.1:c.425A>C	XP_011521284.1:p.Lys142Thr
XM_011522984.1:c.425A>C	XP_011521286.1:p.Lys142Thr
NM_001323543.1:c.-149A>C	NP_001310472.1:n.-149A>C
NM_001323544.1:c.425A>C	NP_001310473.1:p.Lys142Thr
XM_005256301.3:c.407A>C	XP_005256358.1:p.Lys136Thr
XM_011522982.2:c.425A>C	XP_011521284.1:p.Lys142Thr
XM_017023111.2:c.425A>C	XP_016878600.1:p.Lys142Thr
XM_017023112.2:c.425A>C	XP_016878601.1:p.Lys142Thr
XM_017023113.1:c.-149A>C	XP_016878602.1:n.-149A>C
NM_000512.5:c.407A>C MANE Select	NP_000503.1:p.Lys136Thr
NM_001323543.2:c.-149A>C	NP_001310472.1:n.-149A>C
NM_001323544.2:c.425A>C	NP_001310473.1:p.Lys142Thr