Canonical Allele Identifier: CA399595590
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40688483T>G (hg19) chr17:g.42536465T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536465T>G , CM000679.2:g.42536465T>G GRCh38
NC_000017.10:g.40688483T>G , CM000679.1:g.40688483T>G GRCh37
NC_000017.9:g.37942009T>G NCBI36
NG_011552.1:g.5533T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.193T>G MANE Select ENSP00000225927.1:p.Tyr65Asp
ENST00000225927.6:c.193T>G ENSP00000225927.1:p.Tyr65Asp
NM_000263.3:c.193T>G NP_000254.2:p.Tyr65Asp
XM_024450771.1:c.193T>G XP_024306539.1:p.Tyr65Asp
NM_000263.4:c.193T>G MANE Select NP_000254.2:p.Tyr65Asp
Search 100 bp 5'
Search 100 bp 3'