Canonical Allele Identifier: CA8576830

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1622838
• ClinVar RCV Id: RCV002108566
• dbSNP Id: rs376430265
• ExAC: 17:40690673 C / T
• gnomAD v2: 17-40690673-C-T
• gnomAD v4: 17-42538655-C-T
• MyVariant Identifiers: chr17:g.40690673C>T (hg19) ; chr17:g.42538655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538655C>T , CM000679.2:g.42538655C>T	GRCh38
NC_000017.10:g.40690673C>T , CM000679.1:g.40690673C>T	GRCh37
NC_000017.9:g.37944199C>T	NCBI36
NG_011552.1:g.7723C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.679-15C>T MANE Select	ENSP00000225927.1:n.679-15C>T
ENST00000225927.6:c.679-15C>T	ENSP00000225927.1:n.679-15C>T
ENST00000586516.5:c.281-15C>T
ENST00000591587.1:c.274-15C>T	ENSP00000467836.1:n.274-15C>T
NM_000263.3:c.679-15C>T	NP_000254.2:n.679-15C>T
XM_006721920.2:c.-64-15C>T	XP_006721983.1:n.-64-15C>T
XM_011524840.1:c.-64-15C>T	XP_011523142.1:n.-64-15C>T
XM_017024687.1:c.-64-15C>T	XP_016880176.1:n.-64-15C>T
XM_024450771.1:c.736-15C>T	XP_024306539.1:n.736-15C>T
XM_024450772.1:c.-64-15C>T	XP_024306540.1:n.-64-15C>T
NM_000263.4:c.679-15C>T MANE Select	NP_000254.2:n.679-15C>T