Canonical Allele Identifier: CA290771554

Gene: NAGLU

Linked Data

• dbSNP Id: rs894403079
• gnomAD v4: 17-42536737-G-T
• MyVariant Identifiers: chr17:g.40688755G>T (hg19) ; chr17:g.42536737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536737G>T , CM000679.2:g.42536737G>T	GRCh38
NC_000017.10:g.40688755G>T , CM000679.1:g.40688755G>T	GRCh37
NC_000017.9:g.37942281G>T	NCBI36
NG_011552.1:g.5805G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+82G>T MANE Select	ENSP00000225927.1:n.383+82G>T
ENST00000225927.6:c.383+82G>T	ENSP00000225927.1:n.383+82G>T
ENST00000586516.5:c.133+82G>T
ENST00000591587.1:c.126+82G>T	ENSP00000467836.1:n.126+82G>T
NM_000263.3:c.383+82G>T	NP_000254.2:n.383+82G>T
XM_006721920.2:c.-360+82G>T	XP_006721983.1:n.-360+82G>T
XM_011524840.1:c.-360+82G>T	XP_011523142.1:n.-360+82G>T
XM_024450771.1:c.384-80G>T	XP_024306539.1:n.384-80G>T
NM_000263.4:c.383+82G>T MANE Select	NP_000254.2:n.383+82G>T