Canonical Allele Identifier: CA399598932

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42538695-C-T
• MyVariant Identifiers: chr17:g.40690713C>T (hg19) ; chr17:g.42538695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538695C>T , CM000679.2:g.42538695C>T	GRCh38
NC_000017.10:g.40690713C>T , CM000679.1:g.40690713C>T	GRCh37
NC_000017.9:g.37944239C>T	NCBI36
NG_011552.1:g.7763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.704C>T MANE Select	ENSP00000225927.1:p.Ser235Phe
ENST00000225927.6:c.704C>T	ENSP00000225927.1:p.Ser235Phe
ENST00000586516.5:c.306C>T
ENST00000591587.1:c.299C>T	ENSP00000467836.1:p.Ser100Phe
NM_000263.3:c.704C>T	NP_000254.2:p.Ser235Phe
XM_006721920.2:c.-39C>T	XP_006721983.1:n.-39C>T
XM_011524840.1:c.-39C>T	XP_011523142.1:n.-39C>T
XM_017024687.1:c.-39C>T	XP_016880176.1:n.-39C>T
XM_024450771.1:c.761C>T	XP_024306539.1:p.Ser254Phe
XM_024450772.1:c.-39C>T	XP_024306540.1:n.-39C>T
NM_000263.4:c.704C>T MANE Select	NP_000254.2:p.Ser235Phe