Canonical Allele Identifier: CA500616057

Linked Data

MyVariant Identifiers: chr17:g.42083476G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006108G>A , CM000679.2:g.44006108G>A GRCh38
NC_000017.10:g.42083476G>A , CM000679.1:g.42083476G>A GRCh37
NC_000017.9:g.39439002G>A NCBI36
NG_008106.1:g.6445G>A
NG_023338.1:g.3362C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.786G>A (NAGS) MANE Select ENSP00000293404.2:p.Gly262=
ENST00000293404.7:c.786G>A (NAGS) ENSP00000293404.2:p.Gly262=
ENST00000589767.1:c.693G>A (NAGS) ENSP00000465408.1:p.Gly231=
ENST00000592915.1:n.61G>A (NAGS)
NM_153006.2:c.786G>A (NAGS) NP_694551.1:p.Gly262=
XM_011524438.1:c.786G>A (NAGS) XP_011522740.1:p.Gly262=
XM_011524439.1:c.288G>A (NAGS) XP_011522741.1:p.Gly96=
XM_011525035.1:c.-463+17464C>T (PYY) XP_011523337.1:n.-463+17464C>T
XM_011524439.2:c.288G>A (NAGS) XP_011522741.1:p.Gly96=
NM_153006.3:c.786G>A (NAGS) MANE Select NP_694551.1:p.Gly262=