Canonical Allele Identifier: CA399598435

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690405A>T (hg19) ; chr17:g.42538387A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538387A>T , CM000679.2:g.42538387A>T	GRCh38
NC_000017.10:g.40690405A>T , CM000679.1:g.40690405A>T	GRCh37
NC_000017.9:g.37943931A>T	NCBI36
NG_011552.1:g.7455A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.580A>T MANE Select	ENSP00000225927.1:p.Thr194Ser
ENST00000225927.6:c.580A>T	ENSP00000225927.1:p.Thr194Ser
ENST00000586516.5:c.182A>T
ENST00000591587.1:c.175A>T	ENSP00000467836.1:p.Thr59Ser
NM_000263.3:c.580A>T	NP_000254.2:p.Thr194Ser
XM_006721920.2:c.-163A>T	XP_006721983.1:n.-163A>T
XM_011524840.1:c.-163A>T	XP_011523142.1:n.-163A>T
XM_017024687.1:c.-163A>T	XP_016880176.1:n.-163A>T
XM_024450771.1:c.637A>T	XP_024306539.1:p.Thr213Ser
XM_024450772.1:c.-163A>T	XP_024306540.1:n.-163A>T
NM_000263.4:c.580A>T MANE Select	NP_000254.2:p.Thr194Ser