Canonical Allele Identifier: CA399598960

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42538704-T-C
• MyVariant Identifiers: chr17:g.40690722T>C (hg19) ; chr17:g.42538704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538704T>C , CM000679.2:g.42538704T>C	GRCh38
NC_000017.10:g.40690722T>C , CM000679.1:g.40690722T>C	GRCh37
NC_000017.9:g.37944248T>C	NCBI36
NG_011552.1:g.7772T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.713T>C MANE Select	ENSP00000225927.1:p.Met238Thr
ENST00000225927.6:c.713T>C	ENSP00000225927.1:p.Met238Thr
ENST00000586516.5:c.315T>C
ENST00000591587.1:c.308T>C	ENSP00000467836.1:p.Met103Thr
NM_000263.3:c.713T>C	NP_000254.2:p.Met238Thr
XM_006721920.2:c.-30T>C	XP_006721983.1:n.-30T>C
XM_011524840.1:c.-30T>C	XP_011523142.1:n.-30T>C
XM_017024687.1:c.-30T>C	XP_016880176.1:n.-30T>C
XM_024450771.1:c.770T>C	XP_024306539.1:p.Met257Thr
XM_024450772.1:c.-30T>C	XP_024306540.1:n.-30T>C
NM_000263.4:c.713T>C MANE Select	NP_000254.2:p.Met238Thr