Canonical Allele Identifier: CA772225126

Linked Data

dbSNP Id: rs1168847065

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007848A>G , CM000679.2:g.44007848A>G GRCh38
NC_000017.10:g.42085216A>G , CM000679.1:g.42085216A>G GRCh37
NC_000017.9:g.39440742A>G NCBI36
NG_008106.1:g.8185A>G
NG_023338.1:g.1622T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+75A>G (NAGS) MANE Select ENSP00000293404.2:n.1451+75A>G
ENST00000293404.7:c.1451+75A>G (NAGS) ENSP00000293404.2:n.1451+75A>G
ENST00000589767.1:c.1382+75A>G (NAGS) ENSP00000465408.1:n.1382+75A>G
ENST00000592915.1:n.1339+75A>G (NAGS)
NM_153006.2:c.1451+75A>G (NAGS) NP_694551.1:n.1451+75A>G
XM_011524438.1:c.1268+354A>G (NAGS) XP_011522740.1:n.1268+354A>G
XM_011524439.1:c.953+75A>G (NAGS) XP_011522741.1:n.953+75A>G
XM_011525035.1:c.-463+15724T>C (PYY) XP_011523337.1:n.-463+15724T>C
XM_011524439.2:c.953+75A>G (NAGS) XP_011522741.1:n.953+75A>G
NM_153006.3:c.1451+75A>G (NAGS) MANE Select NP_694551.1:n.1451+75A>G