Canonical Allele Identifier: CA399726300

Linked Data

dbSNP Id: rs1253375794

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006621C>G , CM000679.2:g.44006621C>G GRCh38
NC_000017.10:g.42083989C>G , CM000679.1:g.42083989C>G GRCh37
NC_000017.9:g.39439515C>G NCBI36
NG_008106.1:g.6958C>G
NG_023338.1:g.2849G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1008C>G (NAGS) MANE Select ENSP00000293404.2:p.Ile336Met
ENST00000293404.7:c.1008C>G (NAGS) ENSP00000293404.2:p.Ile336Met
ENST00000589767.1:c.915C>G (NAGS) ENSP00000465408.1:p.Ile305Met
ENST00000592915.1:n.283C>G (NAGS)
NM_153006.2:c.1008C>G (NAGS) NP_694551.1:p.Ile336Met
XM_011524438.1:c.1008C>G (NAGS) XP_011522740.1:p.Ile336Met
XM_011524439.1:c.510C>G (NAGS) XP_011522741.1:p.Ile170Met
XM_011525035.1:c.-463+16951G>C (PYY) XP_011523337.1:n.-463+16951G>C
XM_011524439.2:c.510C>G (NAGS) XP_011522741.1:p.Ile170Met
NM_153006.3:c.1008C>G (NAGS) MANE Select NP_694551.1:p.Ile336Met