Canonical Allele Identifier: CA399726249

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006605A>T , CM000679.2:g.44006605A>T GRCh38
NC_000017.10:g.42083973A>T , CM000679.1:g.42083973A>T GRCh37
NC_000017.9:g.39439499A>T NCBI36
NG_008106.1:g.6942A>T
NG_023338.1:g.2865T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.992A>T (NAGS) MANE Select ENSP00000293404.2:p.Gln331Leu
ENST00000293404.7:c.992A>T (NAGS) ENSP00000293404.2:p.Gln331Leu
ENST00000589767.1:c.899A>T (NAGS) ENSP00000465408.1:p.Gln300Leu
ENST00000592915.1:n.267A>T (NAGS)
NM_153006.2:c.992A>T (NAGS) NP_694551.1:p.Gln331Leu
XM_011524438.1:c.992A>T (NAGS) XP_011522740.1:p.Gln331Leu
XM_011524439.1:c.494A>T (NAGS) XP_011522741.1:p.Gln165Leu
XM_011525035.1:c.-463+16967T>A (PYY) XP_011523337.1:n.-463+16967T>A
XM_011524439.2:c.494A>T (NAGS) XP_011522741.1:p.Gln165Leu
NM_153006.3:c.992A>T (NAGS) MANE Select NP_694551.1:p.Gln331Leu