Canonical Allele Identifier: CA399598355

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690370T>C (hg19) ; chr17:g.42538352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538352T>C , CM000679.2:g.42538352T>C	GRCh38
NC_000017.10:g.40690370T>C , CM000679.1:g.40690370T>C	GRCh37
NC_000017.9:g.37943896T>C	NCBI36
NG_011552.1:g.7420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.545T>C MANE Select	ENSP00000225927.1:p.Leu182Ser
ENST00000225927.6:c.545T>C	ENSP00000225927.1:p.Leu182Ser
ENST00000586516.5:c.147T>C
ENST00000590358.1:c.233T>C	ENSP00000466892.1:p.Leu78Ser
ENST00000591587.1:c.140T>C	ENSP00000467836.1:p.Leu47Ser
NM_000263.3:c.545T>C	NP_000254.2:p.Leu182Ser
XM_006721920.2:c.-198T>C	XP_006721983.1:n.-198T>C
XM_011524840.1:c.-198T>C	XP_011523142.1:n.-198T>C
XM_017024687.1:c.-198T>C	XP_016880176.1:n.-198T>C
XM_024450771.1:c.602T>C	XP_024306539.1:p.Leu201Ser
XM_024450772.1:c.-198T>C	XP_024306540.1:n.-198T>C
NM_000263.4:c.545T>C MANE Select	NP_000254.2:p.Leu182Ser