Canonical Allele Identifier: CA399605539

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543940-A-T
• MyVariant Identifiers: chr17:g.40695958A>T (hg19) ; chr17:g.42543940A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543940A>T , CM000679.2:g.42543940A>T	GRCh38
NC_000017.10:g.40695958A>T , CM000679.1:g.40695958A>T	GRCh37
NC_000017.9:g.37949484A>T	NCBI36
NG_011552.1:g.13008A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1934A>T MANE Select	ENSP00000225927.1:p.Gln645Leu
ENST00000225927.6:c.1934A>T	ENSP00000225927.1:p.Gln645Leu
ENST00000591587.1:c.1272A>T	ENSP00000467836.1:n.1272A>T
NM_000263.3:c.1934A>T	NP_000254.2:p.Gln645Leu
XM_006721920.2:c.1103A>T	XP_006721983.1:p.Gln368Leu
XM_011524840.1:c.935A>T	XP_011523142.1:p.Gln312Leu
XM_017024687.1:c.1103A>T	XP_016880176.1:p.Gln368Leu
XM_024450771.1:c.1991A>T	XP_024306539.1:p.Gln664Leu
XM_024450772.1:c.935A>T	XP_024306540.1:p.Gln312Leu
NM_000263.4:c.1934A>T MANE Select	NP_000254.2:p.Gln645Leu