Canonical Allele Identifier: CA399600278

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40693152A>T (hg19) ; chr17:g.42541134A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541134A>T , CM000679.2:g.42541134A>T	GRCh38
NC_000017.10:g.40693152A>T , CM000679.1:g.40693152A>T	GRCh37
NC_000017.9:g.37946678A>T	NCBI36
NG_011552.1:g.10202A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.949A>T MANE Select	ENSP00000225927.1:p.Met317Leu
ENST00000225927.6:c.949A>T	ENSP00000225927.1:p.Met317Leu
ENST00000591587.1:c.360-1894A>T	ENSP00000467836.1:n.360-1894A>T
ENST00000592454.1:c.44A>T
NM_000263.3:c.949A>T	NP_000254.2:p.Met317Leu
XM_006721920.2:c.118A>T	XP_006721983.1:p.Met40Leu
XM_011524840.1:c.23-1894A>T	XP_011523142.1:n.23-1894A>T
XM_017024687.1:c.118A>T	XP_016880176.1:p.Met40Leu
XM_024450771.1:c.1006A>T	XP_024306539.1:p.Met336Leu
XM_024450772.1:c.23-1894A>T	XP_024306540.1:n.23-1894A>T
NM_000263.4:c.949A>T MANE Select	NP_000254.2:p.Met317Leu