Canonical Allele Identifier: CA399596077

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536591-C-T
• MyVariant Identifiers: chr17:g.40688609C>T (hg19) ; chr17:g.42536591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536591C>T , CM000679.2:g.42536591C>T	GRCh38
NC_000017.10:g.40688609C>T , CM000679.1:g.40688609C>T	GRCh37
NC_000017.9:g.37942135C>T	NCBI36
NG_011552.1:g.5659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.319C>T MANE Select	ENSP00000225927.1:p.Gln107Ter
ENST00000225927.6:c.319C>T	ENSP00000225927.1:p.Gln107Ter
ENST00000586516.5:c.69C>T
ENST00000591587.1:c.62C>T	ENSP00000467836.1:p.Ser21Leu
NM_000263.3:c.319C>T	NP_000254.2:p.Gln107Ter
XM_006721920.2:c.-424C>T	XP_006721983.1:n.-424C>T
XM_011524840.1:c.-424C>T	XP_011523142.1:n.-424C>T
XM_024450771.1:c.319C>T	XP_024306539.1:p.Gln107Ter
NM_000263.4:c.319C>T MANE Select	NP_000254.2:p.Gln107Ter