Canonical Allele Identifier: CA290773440

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1669245
• ClinVar RCV Id: RCV002194547
• dbSNP Id: rs892493572
• gnomAD v2: 17-40690729-A-T
• gnomAD v3: 17-42538711-A-T
• gnomAD v4: 17-42538711-A-T
• MyVariant Identifiers: chr17:g.40690729A>T (hg19) ; chr17:g.42538711A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538711A>T , CM000679.2:g.42538711A>T	GRCh38
NC_000017.10:g.40690729A>T , CM000679.1:g.40690729A>T	GRCh37
NC_000017.9:g.37944255A>T	NCBI36
NG_011552.1:g.7779A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.720A>T MANE Select	ENSP00000225927.1:p.Pro240=
ENST00000225927.6:c.720A>T	ENSP00000225927.1:p.Pro240=
ENST00000586516.5:c.322A>T
ENST00000591587.1:c.315A>T	ENSP00000467836.1:p.Pro105=
NM_000263.3:c.720A>T	NP_000254.2:p.Pro240=
XM_006721920.2:c.-23A>T	XP_006721983.1:n.-23A>T
XM_011524840.1:c.-23A>T	XP_011523142.1:n.-23A>T
XM_017024687.1:c.-23A>T	XP_016880176.1:n.-23A>T
XM_024450771.1:c.777A>T	XP_024306539.1:p.Pro259=
XM_024450772.1:c.-23A>T	XP_024306540.1:n.-23A>T
NM_000263.4:c.720A>T MANE Select	NP_000254.2:p.Pro240=