Canonical Allele Identifier: CA399605553

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695963A>T (hg19) ; chr17:g.42543945A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543945A>T , CM000679.2:g.42543945A>T	GRCh38
NC_000017.10:g.40695963A>T , CM000679.1:g.40695963A>T	GRCh37
NC_000017.9:g.37949489A>T	NCBI36
NG_011552.1:g.13013A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1939A>T MANE Select	ENSP00000225927.1:p.Thr647Ser
ENST00000225927.6:c.1939A>T	ENSP00000225927.1:p.Thr647Ser
ENST00000591587.1:c.1277A>T	ENSP00000467836.1:n.1277A>T
NM_000263.3:c.1939A>T	NP_000254.2:p.Thr647Ser
XM_006721920.2:c.1108A>T	XP_006721983.1:p.Thr370Ser
XM_011524840.1:c.940A>T	XP_011523142.1:p.Thr314Ser
XM_017024687.1:c.1108A>T	XP_016880176.1:p.Thr370Ser
XM_024450771.1:c.1996A>T	XP_024306539.1:p.Thr666Ser
XM_024450772.1:c.940A>T	XP_024306540.1:p.Thr314Ser
NM_000263.4:c.1939A>T MANE Select	NP_000254.2:p.Thr647Ser