Canonical Allele Identifier: CA2733674972

Linked Data

dbSNP Id: rs1470219186

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006255A>C , CM000679.2:g.44006255A>C GRCh38
NC_000017.10:g.42083623A>C , CM000679.1:g.42083623A>C GRCh37
NC_000017.9:g.39439149A>C NCBI36
NG_008106.1:g.6592A>C
NG_023338.1:g.3215T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.915+18A>C (NAGS) MANE Select ENSP00000293404.2:n.915+18A>C
ENST00000293404.7:c.915+18A>C (NAGS) ENSP00000293404.2:n.915+18A>C
ENST00000589767.1:c.822+18A>C (NAGS) ENSP00000465408.1:n.822+18A>C
ENST00000592915.1:n.190+18A>C (NAGS)
NM_153006.2:c.915+18A>C (NAGS) NP_694551.1:n.915+18A>C
XM_011524438.1:c.915+18A>C (NAGS) XP_011522740.1:n.915+18A>C
XM_011524439.1:c.417+18A>C (NAGS) XP_011522741.1:n.417+18A>C
XM_011525035.1:c.-463+17317T>G (PYY) XP_011523337.1:n.-463+17317T>G
XM_011524439.2:c.417+18A>C (NAGS) XP_011522741.1:n.417+18A>C
NM_153006.3:c.915+18A>C (NAGS) MANE Select NP_694551.1:n.915+18A>C