Canonical Allele Identifier: CA399606567

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42544236-T-C
• MyVariant Identifiers: chr17:g.40696254T>C (hg19) ; chr17:g.42544236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544236T>C , CM000679.2:g.42544236T>C	GRCh38
NC_000017.10:g.40696254T>C , CM000679.1:g.40696254T>C	GRCh37
NC_000017.9:g.37949780T>C	NCBI36
NG_011552.1:g.13304T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2230T>C MANE Select	ENSP00000225927.1:p.Ter744Arg
ENST00000225927.6:c.2230T>C	ENSP00000225927.1:p.Ter744Arg
NM_000263.3:c.2230T>C	NP_000254.2:p.Ter744Arg
XM_006721920.2:c.1399T>C	XP_006721983.1:p.Ter467Arg
XM_011524840.1:c.1231T>C	XP_011523142.1:p.Ter411Arg
XM_017024687.1:c.1399T>C	XP_016880176.1:p.Ter467Arg
XM_024450771.1:c.2287T>C	XP_024306539.1:p.Ter763Arg
XM_024450772.1:c.1231T>C	XP_024306540.1:p.Ter411Arg
NM_000263.4:c.2230T>C MANE Select	NP_000254.2:p.Ter744Arg