Canonical Allele Identifier: CA399606191

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40696138A>T (hg19) ; chr17:g.42544120A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544120A>T , CM000679.2:g.42544120A>T	GRCh38
NC_000017.10:g.40696138A>T , CM000679.1:g.40696138A>T	GRCh37
NC_000017.9:g.37949664A>T	NCBI36
NG_011552.1:g.13188A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2114A>T MANE Select	ENSP00000225927.1:p.Glu705Val
ENST00000225927.6:c.2114A>T	ENSP00000225927.1:p.Glu705Val
ENST00000591587.1:c.1452A>T	ENSP00000467836.1:n.1452A>T
NM_000263.3:c.2114A>T	NP_000254.2:p.Glu705Val
XM_006721920.2:c.1283A>T	XP_006721983.1:p.Glu428Val
XM_011524840.1:c.1115A>T	XP_011523142.1:p.Glu372Val
XM_017024687.1:c.1283A>T	XP_016880176.1:p.Glu428Val
XM_024450771.1:c.2171A>T	XP_024306539.1:p.Glu724Val
XM_024450772.1:c.1115A>T	XP_024306540.1:p.Glu372Val
NM_000263.4:c.2114A>T MANE Select	NP_000254.2:p.Glu705Val