Canonical Allele Identifier: CA399598992

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2201554
• ClinVar RCV Id: RCV002629719
• dbSNP Id: rs1221009492
• gnomAD v2: 17-40690728-C-T
• gnomAD v3: 17-42538710-C-T
• gnomAD v4: 17-42538710-C-T
• MyVariant Identifiers: chr17:g.40690728C>T (hg19) ; chr17:g.42538710C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538710C>T , CM000679.2:g.42538710C>T	GRCh38
NC_000017.10:g.40690728C>T , CM000679.1:g.40690728C>T	GRCh37
NC_000017.9:g.37944254C>T	NCBI36
NG_011552.1:g.7778C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.719C>T MANE Select	ENSP00000225927.1:p.Pro240Leu
ENST00000225927.6:c.719C>T	ENSP00000225927.1:p.Pro240Leu
ENST00000586516.5:c.321C>T
ENST00000591587.1:c.314C>T	ENSP00000467836.1:p.Pro105Leu
NM_000263.3:c.719C>T	NP_000254.2:p.Pro240Leu
XM_006721920.2:c.-24C>T	XP_006721983.1:n.-24C>T
XM_011524840.1:c.-24C>T	XP_011523142.1:n.-24C>T
XM_017024687.1:c.-24C>T	XP_016880176.1:n.-24C>T
XM_024450771.1:c.776C>T	XP_024306539.1:p.Pro259Leu
XM_024450772.1:c.-24C>T	XP_024306540.1:n.-24C>T
NM_000263.4:c.719C>T MANE Select	NP_000254.2:p.Pro240Leu