Canonical Allele Identifier: CA2261182091

Linked Data

dbSNP Id: rs2049091577

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006378C>T , CM000679.2:g.44006378C>T GRCh38
NC_000017.10:g.42083746C>T , CM000679.1:g.42083746C>T GRCh37
NC_000017.9:g.39439272C>T NCBI36
NG_008106.1:g.6715C>T
NG_023338.1:g.3092G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.915+141C>T (NAGS) MANE Select ENSP00000293404.2:n.915+141C>T
ENST00000293404.7:c.915+141C>T (NAGS) ENSP00000293404.2:n.915+141C>T
ENST00000589767.1:c.822+141C>T (NAGS) ENSP00000465408.1:n.822+141C>T
ENST00000592915.1:n.190+141C>T (NAGS)
NM_153006.2:c.915+141C>T (NAGS) NP_694551.1:n.915+141C>T
XM_011524438.1:c.915+141C>T (NAGS) XP_011522740.1:n.915+141C>T
XM_011524439.1:c.417+141C>T (NAGS) XP_011522741.1:n.417+141C>T
XM_011525035.1:c.-463+17194G>A (PYY) XP_011523337.1:n.-463+17194G>A
XM_011524439.2:c.417+141C>T (NAGS) XP_011522741.1:n.417+141C>T
NM_153006.3:c.915+141C>T (NAGS) MANE Select NP_694551.1:n.915+141C>T