Canonical Allele Identifier: CA500616298

Linked Data

MyVariant Identifiers: chr17:g.42084860G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007492G>A , CM000679.2:g.44007492G>A GRCh38
NC_000017.10:g.42084860G>A , CM000679.1:g.42084860G>A GRCh37
NC_000017.9:g.39440386G>A NCBI36
NG_008106.1:g.7829G>A
NG_023338.1:g.1978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1266G>A (NAGS) MANE Select ENSP00000293404.2:p.Glu422=
ENST00000293404.7:c.1266G>A (NAGS) ENSP00000293404.2:p.Glu422=
ENST00000589767.1:c.1173G>A (NAGS) ENSP00000465408.1:p.Glu391=
ENST00000592915.1:n.1154G>A (NAGS)
NM_153006.2:c.1266G>A (NAGS) NP_694551.1:p.Glu422=
XM_011524438.1:c.1266G>A (NAGS) XP_011522740.1:p.Glu422=
XM_011524439.1:c.768G>A (NAGS) XP_011522741.1:p.Glu256=
XM_011525035.1:c.-463+16080C>T (PYY) XP_011523337.1:n.-463+16080C>T
XM_011524439.2:c.768G>A (NAGS) XP_011522741.1:p.Glu256=
NM_153006.3:c.1266G>A (NAGS) MANE Select NP_694551.1:p.Glu422=