Canonical Allele Identifier: CA399725390

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006065G>C , CM000679.2:g.44006065G>C GRCh38
NC_000017.10:g.42083433G>C , CM000679.1:g.42083433G>C GRCh37
NC_000017.9:g.39438959G>C NCBI36
NG_008106.1:g.6402G>C
NG_023338.1:g.3405C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.743G>C (NAGS) MANE Select ENSP00000293404.2:p.Trp248Ser
ENST00000293404.7:c.743G>C (NAGS) ENSP00000293404.2:p.Trp248Ser
ENST00000589767.1:c.650G>C (NAGS) ENSP00000465408.1:p.Trp217Ser
ENST00000592915.1:n.18G>C (NAGS)
NM_153006.2:c.743G>C (NAGS) NP_694551.1:p.Trp248Ser
XM_011524438.1:c.743G>C (NAGS) XP_011522740.1:p.Trp248Ser
XM_011524439.1:c.245G>C (NAGS) XP_011522741.1:p.Trp82Ser
XM_011525035.1:c.-463+17507C>G (PYY) XP_011523337.1:n.-463+17507C>G
XM_011524439.2:c.245G>C (NAGS) XP_011522741.1:p.Trp82Ser
NM_153006.3:c.743G>C (NAGS) MANE Select NP_694551.1:p.Trp248Ser