Canonical Allele Identifier: CA399600302

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1986926
• ClinVar RCV Id: RCV002770890
• dbSNP Id: rs2092920790
• gnomAD v3: 17-42541144-C-T
• gnomAD v4: 17-42541144-C-T
• MyVariant Identifiers: chr17:g.40693162C>T (hg19) ; chr17:g.42541144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541144C>T , CM000679.2:g.42541144C>T	GRCh38
NC_000017.10:g.40693162C>T , CM000679.1:g.40693162C>T	GRCh37
NC_000017.9:g.37946688C>T	NCBI36
NG_011552.1:g.10212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.959C>T MANE Select	ENSP00000225927.1:p.Pro320Leu
ENST00000225927.6:c.959C>T	ENSP00000225927.1:p.Pro320Leu
ENST00000591587.1:c.360-1884C>T	ENSP00000467836.1:n.360-1884C>T
ENST00000592454.1:c.54C>T
NM_000263.3:c.959C>T	NP_000254.2:p.Pro320Leu
XM_006721920.2:c.128C>T	XP_006721983.1:p.Pro43Leu
XM_011524840.1:c.23-1884C>T	XP_011523142.1:n.23-1884C>T
XM_017024687.1:c.128C>T	XP_016880176.1:p.Pro43Leu
XM_024450771.1:c.1016C>T	XP_024306539.1:p.Pro339Leu
XM_024450772.1:c.23-1884C>T	XP_024306540.1:n.23-1884C>T
NM_000263.4:c.959C>T MANE Select	NP_000254.2:p.Pro320Leu