Canonical Allele Identifier: CA399605441

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2122813
• ClinVar RCV Id: RCV003054238
• MyVariant Identifiers: chr17:g.40695933T>C (hg19) ; chr17:g.42543915T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543915T>C , CM000679.2:g.42543915T>C	GRCh38
NC_000017.10:g.40695933T>C , CM000679.1:g.40695933T>C	GRCh37
NC_000017.9:g.37949459T>C	NCBI36
NG_011552.1:g.12983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1909T>C MANE Select	ENSP00000225927.1:p.Phe637Leu
ENST00000225927.6:c.1909T>C	ENSP00000225927.1:p.Phe637Leu
ENST00000591587.1:c.1247T>C	ENSP00000467836.1:n.1247T>C
NM_000263.3:c.1909T>C	NP_000254.2:p.Phe637Leu
XM_006721920.2:c.1078T>C	XP_006721983.1:p.Phe360Leu
XM_011524840.1:c.910T>C	XP_011523142.1:p.Phe304Leu
XM_017024687.1:c.1078T>C	XP_016880176.1:p.Phe360Leu
XM_024450771.1:c.1966T>C	XP_024306539.1:p.Phe656Leu
XM_024450772.1:c.910T>C	XP_024306540.1:p.Phe304Leu
NM_000263.4:c.1909T>C MANE Select	NP_000254.2:p.Phe637Leu