Canonical Allele Identifier: CA399604070

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695535G>C (hg19) ; chr17:g.42543517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543517G>C , CM000679.2:g.42543517G>C	GRCh38
NC_000017.10:g.40695535G>C , CM000679.1:g.40695535G>C	GRCh37
NC_000017.9:g.37949061G>C	NCBI36
NG_011552.1:g.12585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1511G>C MANE Select	ENSP00000225927.1:p.Cys504Ser
ENST00000225927.6:c.1511G>C	ENSP00000225927.1:p.Cys504Ser
ENST00000591587.1:c.849G>C	ENSP00000467836.1:n.849G>C
ENST00000592454.1:c.550G>C
NM_000263.3:c.1511G>C	NP_000254.2:p.Cys504Ser
XM_006721920.2:c.680G>C	XP_006721983.1:p.Cys227Ser
XM_011524840.1:c.512G>C	XP_011523142.1:p.Cys171Ser
XM_017024687.1:c.680G>C	XP_016880176.1:p.Cys227Ser
XM_024450771.1:c.1568G>C	XP_024306539.1:p.Cys523Ser
XM_024450772.1:c.512G>C	XP_024306540.1:p.Cys171Ser
NM_000263.4:c.1511G>C MANE Select	NP_000254.2:p.Cys504Ser