Canonical Allele Identifier: CA290853711

Linked Data

dbSNP Id: rs200620174

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007424G>A , CM000679.2:g.44007424G>A GRCh38
NC_000017.10:g.42084792G>A , CM000679.1:g.42084792G>A GRCh37
NC_000017.9:g.39440318G>A NCBI36
NG_008106.1:g.7761G>A
NG_023338.1:g.2046C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1198G>A (NAGS) MANE Select ENSP00000293404.2:p.Gly400Ser
ENST00000293404.7:c.1198G>A (NAGS) ENSP00000293404.2:p.Gly400Ser
ENST00000589767.1:c.1105G>A (NAGS) ENSP00000465408.1:p.Gly369Ser
ENST00000592915.1:n.1086G>A (NAGS)
NM_153006.2:c.1198G>A (NAGS) NP_694551.1:p.Gly400Ser
XM_011524438.1:c.1198G>A (NAGS) XP_011522740.1:p.Gly400Ser
XM_011524439.1:c.700G>A (NAGS) XP_011522741.1:p.Gly234Ser
XM_011525035.1:c.-463+16148C>T (PYY) XP_011523337.1:n.-463+16148C>T
XM_011524439.2:c.700G>A (NAGS) XP_011522741.1:p.Gly234Ser
NM_153006.3:c.1198G>A (NAGS) MANE Select NP_694551.1:p.Gly400Ser