Canonical Allele Identifier: CA500616676

Linked Data

MyVariant Identifiers: chr17:g.42085133C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007765C>T , CM000679.2:g.44007765C>T GRCh38
NC_000017.10:g.42085133C>T , CM000679.1:g.42085133C>T GRCh37
NC_000017.9:g.39440659C>T NCBI36
NG_008106.1:g.8102C>T
NG_023338.1:g.1705G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1443C>T (NAGS) MANE Select ENSP00000293404.2:p.Ile481=
ENST00000293404.7:c.1443C>T (NAGS) ENSP00000293404.2:p.Ile481=
ENST00000589767.1:c.1374C>T (NAGS) ENSP00000465408.1:p.Ile458=
ENST00000592915.1:n.1331C>T (NAGS)
NM_153006.2:c.1443C>T (NAGS) NP_694551.1:p.Ile481=
XM_011524438.1:c.1268+271C>T (NAGS) XP_011522740.1:n.1268+271C>T
XM_011524439.1:c.945C>T (NAGS) XP_011522741.1:p.Ile315=
XM_011525035.1:c.-463+15807G>A (PYY) XP_011523337.1:n.-463+15807G>A
XM_011524439.2:c.945C>T (NAGS) XP_011522741.1:p.Ile315=
NM_153006.3:c.1443C>T (NAGS) MANE Select NP_694551.1:p.Ile481=