Canonical Allele Identifier: CA399598368

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690378A>C (hg19) ; chr17:g.42538360A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538360A>C , CM000679.2:g.42538360A>C	GRCh38
NC_000017.10:g.40690378A>C , CM000679.1:g.40690378A>C	GRCh37
NC_000017.9:g.37943904A>C	NCBI36
NG_011552.1:g.7428A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.553A>C MANE Select	ENSP00000225927.1:p.Thr185Pro
ENST00000225927.6:c.553A>C	ENSP00000225927.1:p.Thr185Pro
ENST00000586516.5:c.155A>C
ENST00000590358.1:c.241A>C	ENSP00000466892.1:p.Thr81Pro
ENST00000591587.1:c.148A>C	ENSP00000467836.1:p.Thr50Pro
NM_000263.3:c.553A>C	NP_000254.2:p.Thr185Pro
XM_006721920.2:c.-190A>C	XP_006721983.1:n.-190A>C
XM_011524840.1:c.-190A>C	XP_011523142.1:n.-190A>C
XM_017024687.1:c.-190A>C	XP_016880176.1:n.-190A>C
XM_024450771.1:c.610A>C	XP_024306539.1:p.Thr204Pro
XM_024450772.1:c.-190A>C	XP_024306540.1:n.-190A>C
NM_000263.4:c.553A>C MANE Select	NP_000254.2:p.Thr185Pro