Canonical Allele Identifier: CA500616070

Linked Data

MyVariant Identifiers: chr17:g.42083485C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006117C>A , CM000679.2:g.44006117C>A GRCh38
NC_000017.10:g.42083485C>A , CM000679.1:g.42083485C>A GRCh37
NC_000017.9:g.39439011C>A NCBI36
NG_008106.1:g.6454C>A
NG_023338.1:g.3353G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.795C>A (NAGS) MANE Select ENSP00000293404.2:p.Ala265=
ENST00000293404.7:c.795C>A (NAGS) ENSP00000293404.2:p.Ala265=
ENST00000589767.1:c.702C>A (NAGS) ENSP00000465408.1:p.Ala234=
ENST00000592915.1:n.70C>A (NAGS)
NM_153006.2:c.795C>A (NAGS) NP_694551.1:p.Ala265=
XM_011524438.1:c.795C>A (NAGS) XP_011522740.1:p.Ala265=
XM_011524439.1:c.297C>A (NAGS) XP_011522741.1:p.Ala99=
XM_011525035.1:c.-463+17455G>T (PYY) XP_011523337.1:n.-463+17455G>T
XM_011524439.2:c.297C>A (NAGS) XP_011522741.1:p.Ala99=
NM_153006.3:c.795C>A (NAGS) MANE Select NP_694551.1:p.Ala265=