Canonical Allele Identifier: CA8577108

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 323304
• ClinVar RCV Id: RCV000308705 ; RCV000652884 ; RCV001699453 ; RCV001699316
• dbSNP Id: rs151013014
• ExAC: 17:40695884 C / T
• gnomAD v2: 17-40695884-C-T
• gnomAD v3: 17-42543866-C-T
• gnomAD v4: 17-42543866-C-T
• MyVariant Identifiers: chr17:g.40695884C>T (hg19) ; chr17:g.42543866C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543866C>T , CM000679.2:g.42543866C>T	GRCh38
NC_000017.10:g.40695884C>T , CM000679.1:g.40695884C>T	GRCh37
NC_000017.9:g.37949410C>T	NCBI36
NG_011552.1:g.12934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1860C>T MANE Select	ENSP00000225927.1:p.Ser620=
ENST00000225927.6:c.1860C>T	ENSP00000225927.1:p.Ser620=
ENST00000591587.1:c.1198C>T	ENSP00000467836.1:n.1198C>T
NM_000263.3:c.1860C>T	NP_000254.2:p.Ser620=
XM_006721920.2:c.1029C>T	XP_006721983.1:p.Ser343=
XM_011524840.1:c.861C>T	XP_011523142.1:p.Ser287=
XM_017024687.1:c.1029C>T	XP_016880176.1:p.Ser343=
XM_024450771.1:c.1917C>T	XP_024306539.1:p.Ser639=
XM_024450772.1:c.861C>T	XP_024306540.1:p.Ser287=
NM_000263.4:c.1860C>T MANE Select	NP_000254.2:p.Ser620=