Canonical Allele Identifier: CA500241104

Linked Data

MyVariant Identifiers: chr17:g.42083971G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006603G>T , CM000679.2:g.44006603G>T GRCh38
NC_000017.10:g.42083971G>T , CM000679.1:g.42083971G>T GRCh37
NC_000017.9:g.39439497G>T NCBI36
NG_008106.1:g.6940G>T
NG_023338.1:g.2867C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.990G>T (NAGS) MANE Select ENSP00000293404.2:p.Arg330=
ENST00000293404.7:c.990G>T (NAGS) ENSP00000293404.2:p.Arg330=
ENST00000589767.1:c.897G>T (NAGS) ENSP00000465408.1:p.Arg299=
ENST00000592915.1:n.265G>T (NAGS)
NM_153006.2:c.990G>T (NAGS) NP_694551.1:p.Arg330=
XM_011524438.1:c.990G>T (NAGS) XP_011522740.1:p.Arg330=
XM_011524439.1:c.492G>T (NAGS) XP_011522741.1:p.Arg164=
XM_011525035.1:c.-463+16969C>A (PYY) XP_011523337.1:n.-463+16969C>A
XM_011524439.2:c.492G>T (NAGS) XP_011522741.1:p.Arg164=
NM_153006.3:c.990G>T (NAGS) MANE Select NP_694551.1:p.Arg330=