Canonical Allele Identifier: CA399606311
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40696194G>C (hg19) chr17:g.42544176G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544176G>C , CM000679.2:g.42544176G>C GRCh38
NC_000017.10:g.40696194G>C , CM000679.1:g.40696194G>C GRCh37
NC_000017.9:g.37949720G>C NCBI36
NG_011552.1:g.13244G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2170G>C MANE Select ENSP00000225927.1:p.Val724Leu
ENST00000225927.6:c.2170G>C ENSP00000225927.1:p.Val724Leu
NM_000263.3:c.2170G>C NP_000254.2:p.Val724Leu
XM_006721920.2:c.1339G>C XP_006721983.1:p.Val447Leu
XM_011524840.1:c.1171G>C XP_011523142.1:p.Val391Leu
XM_017024687.1:c.1339G>C XP_016880176.1:p.Val447Leu
XM_024450771.1:c.2227G>C XP_024306539.1:p.Val743Leu
XM_024450772.1:c.1171G>C XP_024306540.1:p.Val391Leu
NM_000263.4:c.2170G>C MANE Select NP_000254.2:p.Val724Leu
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