Canonical Allele Identifier: CA399598958

Gene: NAGLU

Linked Data

• dbSNP Id: rs1320973052
• gnomAD v4: 17-42538703-A-T
• MyVariant Identifiers: chr17:g.40690721A>T (hg19) ; chr17:g.42538703A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538703A>T , CM000679.2:g.42538703A>T	GRCh38
NC_000017.10:g.40690721A>T , CM000679.1:g.40690721A>T	GRCh37
NC_000017.9:g.37944247A>T	NCBI36
NG_011552.1:g.7771A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.712A>T MANE Select	ENSP00000225927.1:p.Met238Leu
ENST00000225927.6:c.712A>T	ENSP00000225927.1:p.Met238Leu
ENST00000586516.5:c.314A>T
ENST00000591587.1:c.307A>T	ENSP00000467836.1:p.Met103Leu
NM_000263.3:c.712A>T	NP_000254.2:p.Met238Leu
XM_006721920.2:c.-31A>T	XP_006721983.1:n.-31A>T
XM_011524840.1:c.-31A>T	XP_011523142.1:n.-31A>T
XM_017024687.1:c.-31A>T	XP_016880176.1:n.-31A>T
XM_024450771.1:c.769A>T	XP_024306539.1:p.Met257Leu
XM_024450772.1:c.-31A>T	XP_024306540.1:n.-31A>T
NM_000263.4:c.712A>T MANE Select	NP_000254.2:p.Met238Leu