Canonical Allele Identifier: CA399598941

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2102081
• ClinVar RCV Id: RCV003019342
• MyVariant Identifiers: chr17:g.40690716T>C (hg19) ; chr17:g.42538698T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538698T>C , CM000679.2:g.42538698T>C	GRCh38
NC_000017.10:g.40690716T>C , CM000679.1:g.40690716T>C	GRCh37
NC_000017.9:g.37944242T>C	NCBI36
NG_011552.1:g.7766T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.707T>C MANE Select	ENSP00000225927.1:p.Phe236Ser
ENST00000225927.6:c.707T>C	ENSP00000225927.1:p.Phe236Ser
ENST00000586516.5:c.309T>C
ENST00000591587.1:c.302T>C	ENSP00000467836.1:p.Phe101Ser
NM_000263.3:c.707T>C	NP_000254.2:p.Phe236Ser
XM_006721920.2:c.-36T>C	XP_006721983.1:n.-36T>C
XM_011524840.1:c.-36T>C	XP_011523142.1:n.-36T>C
XM_017024687.1:c.-36T>C	XP_016880176.1:n.-36T>C
XM_024450771.1:c.764T>C	XP_024306539.1:p.Phe255Ser
XM_024450772.1:c.-36T>C	XP_024306540.1:n.-36T>C
NM_000263.4:c.707T>C MANE Select	NP_000254.2:p.Phe236Ser