Canonical Allele Identifier: CA2261181898

Linked Data

dbSNP Id: rs2049084047

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44005988G>C , CM000679.2:g.44005988G>C GRCh38
NC_000017.10:g.42083356G>C , CM000679.1:g.42083356G>C GRCh37
NC_000017.9:g.39438882G>C NCBI36
NG_008106.1:g.6325G>C
NG_023338.1:g.3482C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.702-36G>C (NAGS) MANE Select ENSP00000293404.2:n.702-36G>C
ENST00000293404.7:c.702-36G>C (NAGS) ENSP00000293404.2:n.702-36G>C
ENST00000589767.1:c.609-36G>C (NAGS) ENSP00000465408.1:n.609-36G>C
NM_153006.2:c.702-36G>C (NAGS) NP_694551.1:n.702-36G>C
XM_011524438.1:c.702-36G>C (NAGS) XP_011522740.1:n.702-36G>C
XM_011524439.1:c.204-36G>C (NAGS) XP_011522741.1:n.204-36G>C
XM_011525035.1:c.-463+17584C>G (PYY) XP_011523337.1:n.-463+17584C>G
XM_011524439.2:c.204-36G>C (NAGS) XP_011522741.1:n.204-36G>C
NM_153006.3:c.702-36G>C (NAGS) MANE Select NP_694551.1:n.702-36G>C