Canonical Allele Identifier: CA399600337

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092920863
• MyVariant Identifiers: chr17:g.40693179T>C (hg19) ; chr17:g.42541161T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541161T>C , CM000679.2:g.42541161T>C	GRCh38
NC_000017.10:g.40693179T>C , CM000679.1:g.40693179T>C	GRCh37
NC_000017.9:g.37946705T>C	NCBI36
NG_011552.1:g.10229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.976T>C MANE Select	ENSP00000225927.1:p.Tyr326His
ENST00000225927.6:c.976T>C	ENSP00000225927.1:p.Tyr326His
ENST00000591587.1:c.360-1867T>C	ENSP00000467836.1:n.360-1867T>C
ENST00000592454.1:c.71T>C
NM_000263.3:c.976T>C	NP_000254.2:p.Tyr326His
XM_006721920.2:c.145T>C	XP_006721983.1:p.Tyr49His
XM_011524840.1:c.23-1867T>C	XP_011523142.1:n.23-1867T>C
XM_017024687.1:c.145T>C	XP_016880176.1:p.Tyr49His
XM_024450771.1:c.1033T>C	XP_024306539.1:p.Tyr345His
XM_024450772.1:c.23-1867T>C	XP_024306540.1:n.23-1867T>C
NM_000263.4:c.976T>C MANE Select	NP_000254.2:p.Tyr326His