Canonical Allele Identifier: CA399598442

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690408G>T (hg19) ; chr17:g.42538390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538390G>T , CM000679.2:g.42538390G>T	GRCh38
NC_000017.10:g.40690408G>T , CM000679.1:g.40690408G>T	GRCh37
NC_000017.9:g.37943934G>T	NCBI36
NG_011552.1:g.7458G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.583G>T MANE Select	ENSP00000225927.1:p.Gly195Cys
ENST00000225927.6:c.583G>T	ENSP00000225927.1:p.Gly195Cys
ENST00000586516.5:c.185G>T
ENST00000591587.1:c.178G>T	ENSP00000467836.1:p.Gly60Cys
NM_000263.3:c.583G>T	NP_000254.2:p.Gly195Cys
XM_006721920.2:c.-160G>T	XP_006721983.1:n.-160G>T
XM_011524840.1:c.-160G>T	XP_011523142.1:n.-160G>T
XM_017024687.1:c.-160G>T	XP_016880176.1:n.-160G>T
XM_024450771.1:c.640G>T	XP_024306539.1:p.Gly214Cys
XM_024450772.1:c.-160G>T	XP_024306540.1:n.-160G>T
NM_000263.4:c.583G>T MANE Select	NP_000254.2:p.Gly195Cys