Canonical Allele Identifier: CA399606293

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40696185G>T (hg19) ; chr17:g.42544167G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544167G>T , CM000679.2:g.42544167G>T	GRCh38
NC_000017.10:g.40696185G>T , CM000679.1:g.40696185G>T	GRCh37
NC_000017.9:g.37949711G>T	NCBI36
NG_011552.1:g.13235G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2161G>T MANE Select	ENSP00000225927.1:p.Gly721Ter
ENST00000225927.6:c.2161G>T	ENSP00000225927.1:p.Gly721Ter
NM_000263.3:c.2161G>T	NP_000254.2:p.Gly721Ter
XM_006721920.2:c.1330G>T	XP_006721983.1:p.Gly444Ter
XM_011524840.1:c.1162G>T	XP_011523142.1:p.Gly388Ter
XM_017024687.1:c.1330G>T	XP_016880176.1:p.Gly444Ter
XM_024450771.1:c.2218G>T	XP_024306539.1:p.Gly740Ter
XM_024450772.1:c.1162G>T	XP_024306540.1:p.Gly388Ter
NM_000263.4:c.2161G>T MANE Select	NP_000254.2:p.Gly721Ter