Canonical Allele Identifier: CA500616075

Linked Data

MyVariant Identifiers: chr17:g.42083488G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006120G>T , CM000679.2:g.44006120G>T GRCh38
NC_000017.10:g.42083488G>T , CM000679.1:g.42083488G>T GRCh37
NC_000017.9:g.39439014G>T NCBI36
NG_008106.1:g.6457G>T
NG_023338.1:g.3350C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.798G>T (NAGS) MANE Select ENSP00000293404.2:p.Ala266=
ENST00000293404.7:c.798G>T (NAGS) ENSP00000293404.2:p.Ala266=
ENST00000589767.1:c.705G>T (NAGS) ENSP00000465408.1:p.Ala235=
ENST00000592915.1:n.73G>T (NAGS)
NM_153006.2:c.798G>T (NAGS) NP_694551.1:p.Ala266=
XM_011524438.1:c.798G>T (NAGS) XP_011522740.1:p.Ala266=
XM_011524439.1:c.300G>T (NAGS) XP_011522741.1:p.Ala100=
XM_011525035.1:c.-463+17452C>A (PYY) XP_011523337.1:n.-463+17452C>A
XM_011524439.2:c.300G>T (NAGS) XP_011522741.1:p.Ala100=
NM_153006.3:c.798G>T (NAGS) MANE Select NP_694551.1:p.Ala266=