Canonical Allele Identifier: CA399598453

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42538396-G-C
• MyVariant Identifiers: chr17:g.40690414G>C (hg19) ; chr17:g.42538396G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538396G>C , CM000679.2:g.42538396G>C	GRCh38
NC_000017.10:g.40690414G>C , CM000679.1:g.40690414G>C	GRCh37
NC_000017.9:g.37943940G>C	NCBI36
NG_011552.1:g.7464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.589G>C MANE Select	ENSP00000225927.1:p.Ala197Pro
ENST00000225927.6:c.589G>C	ENSP00000225927.1:p.Ala197Pro
ENST00000586516.5:c.191G>C
ENST00000591587.1:c.184G>C	ENSP00000467836.1:p.Ala62Pro
NM_000263.3:c.589G>C	NP_000254.2:p.Ala197Pro
XM_006721920.2:c.-154G>C	XP_006721983.1:n.-154G>C
XM_011524840.1:c.-154G>C	XP_011523142.1:n.-154G>C
XM_017024687.1:c.-154G>C	XP_016880176.1:n.-154G>C
XM_024450771.1:c.646G>C	XP_024306539.1:p.Ala216Pro
XM_024450772.1:c.-154G>C	XP_024306540.1:n.-154G>C
NM_000263.4:c.589G>C MANE Select	NP_000254.2:p.Ala197Pro