Canonical Allele Identifier: CA399727023

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007429G>C , CM000679.2:g.44007429G>C GRCh38
NC_000017.10:g.42084797G>C , CM000679.1:g.42084797G>C GRCh37
NC_000017.9:g.39440323G>C NCBI36
NG_008106.1:g.7766G>C
NG_023338.1:g.2041C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1203G>C (NAGS) MANE Select ENSP00000293404.2:p.Lys401Asn
ENST00000293404.7:c.1203G>C (NAGS) ENSP00000293404.2:p.Lys401Asn
ENST00000589767.1:c.1110G>C (NAGS) ENSP00000465408.1:p.Lys370Asn
ENST00000592915.1:n.1091G>C (NAGS)
NM_153006.2:c.1203G>C (NAGS) NP_694551.1:p.Lys401Asn
XM_011524438.1:c.1203G>C (NAGS) XP_011522740.1:p.Lys401Asn
XM_011524439.1:c.705G>C (NAGS) XP_011522741.1:p.Lys235Asn
XM_011525035.1:c.-463+16143C>G (PYY) XP_011523337.1:n.-463+16143C>G
XM_011524439.2:c.705G>C (NAGS) XP_011522741.1:p.Lys235Asn
NM_153006.3:c.1203G>C (NAGS) MANE Select NP_694551.1:p.Lys401Asn