Canonical Allele Identifier: CA399605381

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543894-G-C
• MyVariant Identifiers: chr17:g.40695912G>C (hg19) ; chr17:g.42543894G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543894G>C , CM000679.2:g.42543894G>C	GRCh38
NC_000017.10:g.40695912G>C , CM000679.1:g.40695912G>C	GRCh37
NC_000017.9:g.37949438G>C	NCBI36
NG_011552.1:g.12962G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1888G>C MANE Select	ENSP00000225927.1:p.Val630Leu
ENST00000225927.6:c.1888G>C	ENSP00000225927.1:p.Val630Leu
ENST00000591587.1:c.1226G>C	ENSP00000467836.1:n.1226G>C
NM_000263.3:c.1888G>C	NP_000254.2:p.Val630Leu
XM_006721920.2:c.1057G>C	XP_006721983.1:p.Val353Leu
XM_011524840.1:c.889G>C	XP_011523142.1:p.Val297Leu
XM_017024687.1:c.1057G>C	XP_016880176.1:p.Val353Leu
XM_024450771.1:c.1945G>C	XP_024306539.1:p.Val649Leu
XM_024450772.1:c.889G>C	XP_024306540.1:p.Val297Leu
NM_000263.4:c.1888G>C MANE Select	NP_000254.2:p.Val630Leu