Canonical Allele Identifier: CA399602351

Gene: NAGLU

Linked Data

• dbSNP Id: rs1567893528
• gnomAD v2: 17-40695430-C-T
• gnomAD v3: 17-42543412-C-T
• gnomAD v4: 17-42543412-C-T
• MyVariant Identifiers: chr17:g.40695430C>T (hg19) ; chr17:g.42543412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543412C>T , CM000679.2:g.42543412C>T	GRCh38
NC_000017.10:g.40695430C>T , CM000679.1:g.40695430C>T	GRCh37
NC_000017.9:g.37948956C>T	NCBI36
NG_011552.1:g.12480C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1406C>T MANE Select	ENSP00000225927.1:p.Pro469Leu
ENST00000225927.6:c.1406C>T	ENSP00000225927.1:p.Pro469Leu
ENST00000591587.1:c.744C>T	ENSP00000467836.1:n.744C>T
ENST00000592454.1:c.445C>T
NM_000263.3:c.1406C>T	NP_000254.2:p.Pro469Leu
XM_006721920.2:c.575C>T	XP_006721983.1:p.Pro192Leu
XM_011524840.1:c.407C>T	XP_011523142.1:p.Pro136Leu
XM_017024687.1:c.575C>T	XP_016880176.1:p.Pro192Leu
XM_024450771.1:c.1463C>T	XP_024306539.1:p.Pro488Leu
XM_024450772.1:c.407C>T	XP_024306540.1:p.Pro136Leu
NM_000263.4:c.1406C>T MANE Select	NP_000254.2:p.Pro469Leu